Target Gene/Pathway Pathway / Gene

---

Search results

---

No.	KEGG PATHWAY On map, Yellow: Drug target, Red: All disease-related	KEGG GENES	KEGG DRUG	DrugBank	Disease ID
1	Acute myeloid leukemia 💬	[1] MTOR 💬 Acute myeloid leukemia × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Acute myeloid leukemia × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 1. Acute myeloid leukemia × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
2	Acute myeloid leukemia 💬	[2] PML, RARA 💬 Acute myeloid leukemia × Name Full Name PML protein PML isoform 1 RARA retinoic acid receptor alpha isoform 1	Tretinoin 💬 Acute myeloid leukemia × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 2. Acute myeloid leukemia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
3	Adipocytokine signaling pathway 💬	[1] MTOR 💬 Adipocytokine signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Adipocytokine signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 3. Adipocytokine signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
4	Alcoholic liver disease 💬	[1] C3 💬 Alcoholic liver disease × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Alcoholic liver disease × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 4. Alcoholic liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
5	Alcoholic liver disease 💬	[1] C5 💬 Alcoholic liver disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Alcoholic liver disease × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 5. Alcoholic liver disease × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
6	Alcoholic liver disease 💬	[1] C5 💬 Alcoholic liver disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Alcoholic liver disease × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 6. Alcoholic liver disease × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
7	Alcoholic liver disease 💬	[1] C5 💬 Alcoholic liver disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Alcoholic liver disease × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 7. Alcoholic liver disease × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
8	Alcoholic liver disease 💬	[1] C5 💬 Alcoholic liver disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Alcoholic liver disease × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 8. Alcoholic liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
9	Alcoholic liver disease 💬	[1] C5 💬 Alcoholic liver disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Alcoholic liver disease × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 9. Alcoholic liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
10	Alcoholic liver disease 💬	[1] C5 💬 Alcoholic liver disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Alcoholic liver disease × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 9. Alcoholic liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
11	Alzheimer disease 💬	[1] LPL 💬 Alzheimer disease × Name Full Name LPL lipoprotein lipase precursor	Dextran sulfate sodium 💬 Alzheimer disease × Name Other Names Dextran sulfate sodium MDS-Kowa A	Dextran	[5]  2 , 62, 79, 96, 97 💬 11. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
12	Alzheimer disease 💬	[1] MTOR 💬 Alzheimer disease × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Alzheimer disease × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 12. Alzheimer disease × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
13	Alzheimer disease 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Alzheimer disease × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Alzheimer disease × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 13. Alzheimer disease × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
14	Alzheimer disease 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Alzheimer disease × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Alzheimer disease × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 14. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
15	Alzheimer disease 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Alzheimer disease × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Alzheimer disease × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 14. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
16	Alzheimer disease 💬	[1] PTGS2 💬 Alzheimer disease × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Alzheimer disease × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 16. Alzheimer disease × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
17	Amphetamine addiction 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Amphetamine addiction × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Amphetamine addiction × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 17. Amphetamine addiction × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
18	Amphetamine addiction 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Amphetamine addiction × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Amphetamine addiction × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 18. Amphetamine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
19	Amphetamine addiction 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Amphetamine addiction × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Amphetamine addiction × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 18. Amphetamine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
20	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin calcium 💬 AMPK signaling pathway × Name Other Names Rosuvastatin calcium ZD 4522 Crestor ROSUVASTAIN CALCIUM ROSUVASTATIN ROSUVSTATIN	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 20. AMPK signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
21	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin 💬 AMPK signaling pathway × Name Other Names Rosuvastatin Creston	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 20. AMPK signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
22	AMPK signaling pathway 💬	[1] MTOR 💬 AMPK signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 AMPK signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 22. AMPK signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
23	Amyotrophic lateral sclerosis 💬	[1] MTOR 💬 Amyotrophic lateral sclerosis × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Amyotrophic lateral sclerosis × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 23. Amyotrophic lateral sclerosis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
24	Amyotrophic lateral sclerosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Amyotrophic lateral sclerosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Amyotrophic lateral sclerosis × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 24. Amyotrophic lateral sclerosis × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
25	Amyotrophic lateral sclerosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Amyotrophic lateral sclerosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Amyotrophic lateral sclerosis × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 25. Amyotrophic lateral sclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
26	Amyotrophic lateral sclerosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Amyotrophic lateral sclerosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Amyotrophic lateral sclerosis × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 25. Amyotrophic lateral sclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
27	Apelin signaling pathway 💬	[1] MTOR 💬 Apelin signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Apelin signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 27. Apelin signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
28	Arachidonic acid metabolism 💬	[2] PTGS1, PTGS2 💬 Arachidonic acid metabolism × Name Full Name PTGS1 prostaglandin G/H synthase 1 isoform 1 precursor PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Arachidonic acid metabolism × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 28. Arachidonic acid metabolism × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
29	Autophagy - animal 💬	[1] MTOR 💬 Autophagy - animal × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Autophagy - animal × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 29. Autophagy - animal × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
30	Autophagy - other 💬	[1] MTOR 💬 Autophagy - other × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Autophagy - other × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 30. Autophagy - other × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
31	Axon guidance 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Axon guidance × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Axon guidance × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 31. Axon guidance × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
32	Axon guidance 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Axon guidance × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Axon guidance × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 32. Axon guidance × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
33	Axon guidance 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Axon guidance × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Axon guidance × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 32. Axon guidance × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
34	B cell receptor signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 B cell receptor signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 B cell receptor signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 34. B cell receptor signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
35	B cell receptor signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 B cell receptor signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 B cell receptor signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 35. B cell receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
36	B cell receptor signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 B cell receptor signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 B cell receptor signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 35. B cell receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
37	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin calcium 💬 Bile secretion × Name Other Names Rosuvastatin calcium ZD 4522 Crestor ROSUVASTAIN CALCIUM ROSUVASTATIN ROSUVSTATIN	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 37. Bile secretion × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
38	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin 💬 Bile secretion × Name Other Names Rosuvastatin Creston	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 37. Bile secretion × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
39	Breast cancer 💬	[1] MTOR 💬 Breast cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Breast cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 39. Breast cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
40	C-type lectin receptor signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 C-type lectin receptor signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 C-type lectin receptor signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 40. C-type lectin receptor signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
41	C-type lectin receptor signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 C-type lectin receptor signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 C-type lectin receptor signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 41. C-type lectin receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
42	C-type lectin receptor signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 C-type lectin receptor signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 C-type lectin receptor signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 41. C-type lectin receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
43	C-type lectin receptor signaling pathway 💬	[1] PTGS2 💬 C-type lectin receptor signaling pathway × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 C-type lectin receptor signaling pathway × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 43. C-type lectin receptor signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
44	Calcium signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Calcium signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Calcium signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 44. Calcium signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
45	Calcium signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Calcium signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Calcium signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 45. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
46	Calcium signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Calcium signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Calcium signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 45. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
47	Cellular senescence 💬	[1] MTOR 💬 Cellular senescence × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Cellular senescence × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 47. Cellular senescence × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
48	Cellular senescence 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Cellular senescence × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Cellular senescence × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 48. Cellular senescence × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
49	Cellular senescence 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Cellular senescence × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Cellular senescence × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 49. Cellular senescence × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
50	Cellular senescence 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Cellular senescence × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Cellular senescence × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 49. Cellular senescence × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
51	Central carbon metabolism in cancer 💬	[1] MTOR 💬 Central carbon metabolism in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Central carbon metabolism in cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 51. Central carbon metabolism in cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
52	cGMP-PKG signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 cGMP-PKG signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 cGMP-PKG signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 52. cGMP-PKG signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
53	cGMP-PKG signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 cGMP-PKG signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 cGMP-PKG signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 53. cGMP-PKG signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
54	cGMP-PKG signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 cGMP-PKG signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 cGMP-PKG signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 53. cGMP-PKG signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
55	Chagas disease 💬	[1] C3 💬 Chagas disease × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Chagas disease × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 55. Chagas disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
56	Chemical carcinogenesis - DNA adducts 💬	[1] PTGS2 💬 Chemical carcinogenesis - DNA adducts × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Chemical carcinogenesis - DNA adducts × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 56. Chemical carcinogenesis - DNA adducts × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
57	Chemical carcinogenesis - receptor activation 💬	[1] MTOR 💬 Chemical carcinogenesis - receptor activation × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Chemical carcinogenesis - receptor activation × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 57. Chemical carcinogenesis - receptor activation × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
58	Cholesterol metabolism 💬	[2] LIPC, LPL 💬 Cholesterol metabolism × Name Full Name LIPC hepatic triacylglycerol lipase precursor LPL lipoprotein lipase precursor	Dextran sulfate sodium 💬 Cholesterol metabolism × Name Other Names Dextran sulfate sodium MDS-Kowa A	Dextran	[5]  2 , 62, 79, 96, 97 💬 58. Cholesterol metabolism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
59	Choline metabolism in cancer 💬	[1] MTOR 💬 Choline metabolism in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Choline metabolism in cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 59. Choline metabolism in cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
60	Colorectal cancer 💬	[1] MTOR 💬 Colorectal cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Colorectal cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 60. Colorectal cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
61	Complement and coagulation cascades 💬	[1] C3 💬 Complement and coagulation cascades × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Complement and coagulation cascades × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 61. Complement and coagulation cascades × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
62	Complement and coagulation cascades 💬	[1] C5 💬 Complement and coagulation cascades × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Complement and coagulation cascades × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 62. Complement and coagulation cascades × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
63	Complement and coagulation cascades 💬	[1] C5 💬 Complement and coagulation cascades × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Complement and coagulation cascades × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 63. Complement and coagulation cascades × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
64	Complement and coagulation cascades 💬	[1] C5 💬 Complement and coagulation cascades × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Complement and coagulation cascades × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 64. Complement and coagulation cascades × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
65	Complement and coagulation cascades 💬	[1] C5 💬 Complement and coagulation cascades × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Complement and coagulation cascades × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 65. Complement and coagulation cascades × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
66	Complement and coagulation cascades 💬	[1] C5 💬 Complement and coagulation cascades × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Complement and coagulation cascades × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 66. Complement and coagulation cascades × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
67	Complement and coagulation cascades 💬	[1] C5 💬 Complement and coagulation cascades × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Complement and coagulation cascades × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 66. Complement and coagulation cascades × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
68	Complement and coagulation cascades 💬	[1] CFB 💬 Complement and coagulation cascades × Name Full Name CFB complement factor B preproprotein	Iptacopan 💬 Complement and coagulation cascades × Name Other Names Iptacopan Iptacopan	Iptacopan	[8] 11, 61, 62, 63, 66, 109, 222, 223 💬 68. Complement and coagulation cascades × Disease ID Name 11 Myasthenia gravis;MG; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
69	Complement and coagulation cascades 💬	[1] CFB 💬 Complement and coagulation cascades × Name Full Name CFB complement factor B preproprotein	Iptacopan hydrochloride 💬 Complement and coagulation cascades × Name Other Names Iptacopan hydrochloride Iptacopan hydrochloride hydrate Iptacopan hydrochloride monohydrate Fabhalta	Iptacopan	[8] 11, 61, 62, 63, 66, 109, 222, 223 💬 68. Complement and coagulation cascades × Disease ID Name 11 Myasthenia gravis;MG; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
70	Complement and coagulation cascades 💬	[1] CFD 💬 Complement and coagulation cascades × Name Full Name CFD complement factor D isoform 1 preproprotein	Danicopan 💬 Complement and coagulation cascades × Name Other Names Danicopan Voydeya	Danicopan	[2] 62, 223 💬 70. Complement and coagulation cascades × Disease ID Name 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
71	Coronavirus disease 💬	[1] C3 💬 Coronavirus disease × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Coronavirus disease × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 71. Coronavirus disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
72	Coronavirus disease 💬	[1] C5 💬 Coronavirus disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Coronavirus disease × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 72. Coronavirus disease × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
73	Coronavirus disease 💬	[1] C5 💬 Coronavirus disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Coronavirus disease × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 73. Coronavirus disease × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
74	Coronavirus disease 💬	[1] C5 💬 Coronavirus disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Coronavirus disease × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 74. Coronavirus disease × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
75	Coronavirus disease 💬	[1] C5 💬 Coronavirus disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Coronavirus disease × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 75. Coronavirus disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
76	Coronavirus disease 💬	[1] C5 💬 Coronavirus disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Coronavirus disease × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 76. Coronavirus disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
77	Coronavirus disease 💬	[1] C5 💬 Coronavirus disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Coronavirus disease × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 76. Coronavirus disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
78	Coronavirus disease 💬	[1] CFB 💬 Coronavirus disease × Name Full Name CFB complement factor B preproprotein	Iptacopan 💬 Coronavirus disease × Name Other Names Iptacopan Iptacopan	Iptacopan	[8] 11, 61, 62, 63, 66, 109, 222, 223 💬 78. Coronavirus disease × Disease ID Name 11 Myasthenia gravis;MG; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
79	Coronavirus disease 💬	[1] CFB 💬 Coronavirus disease × Name Full Name CFB complement factor B preproprotein	Iptacopan hydrochloride 💬 Coronavirus disease × Name Other Names Iptacopan hydrochloride Iptacopan hydrochloride hydrate Iptacopan hydrochloride monohydrate Fabhalta	Iptacopan	[8] 11, 61, 62, 63, 66, 109, 222, 223 💬 78. Coronavirus disease × Disease ID Name 11 Myasthenia gravis;MG; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
80	Coronavirus disease 💬	[1] CFD 💬 Coronavirus disease × Name Full Name CFD complement factor D isoform 1 preproprotein	Danicopan 💬 Coronavirus disease × Name Other Names Danicopan Voydeya	Danicopan	[2] 62, 223 💬 80. Coronavirus disease × Disease ID Name 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
81	Cytokine-cytokine receptor interaction 💬	[1] CSF2RA 💬 Cytokine-cytokine receptor interaction × Name Full Name CSF2RA granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor	Sargramostim 💬 Cytokine-cytokine receptor interaction × Name Other Names Sargramostim Leukine Sargmalin	Sargramostim	[7]  6 , 28, 60, 62, 96, 229, 285 💬 81. Cytokine-cytokine receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 285 Fanconi anemia;
82	Cytokine-cytokine receptor interaction 💬	[1] CSF3R 💬 Cytokine-cytokine receptor interaction × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Filgrastim 💬 Cytokine-cytokine receptor interaction × Name Other Names Filgrastim Tbo-filgrastim Filgrastim-sndz Filgrastim-aafi Filgrastim-txid Filgrastim-laha Neupogen Nivestym Grastofil Zarxio FILKRI GRANIX NYPOZI RELEUKO	Filgrastim	[30]  2 ,  6 , 13, 25, 26, 28, 34, 35, 38, 40, 41, 42, 45, 46, 47, 49, 51, 60, 62, 63, 65, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬 82. Cytokine-cytokine receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 47 Buerger disease;Thromboangiitis obliterans; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
83	Diabetic cardiomyopathy 💬	[1] MTOR 💬 Diabetic cardiomyopathy × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Diabetic cardiomyopathy × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 83. Diabetic cardiomyopathy × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
84	Dopaminergic synapse 💬	[3] PPP3CA, PPP3CB, PPP3CC 💬 Dopaminergic synapse × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2	Cyclosporine 💬 Dopaminergic synapse × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 84. Dopaminergic synapse × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
85	Dopaminergic synapse 💬	[3] PPP3CA, PPP3CB, PPP3CC 💬 Dopaminergic synapse × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2	Tacrolimus 💬 Dopaminergic synapse × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 85. Dopaminergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
86	Dopaminergic synapse 💬	[3] PPP3CA, PPP3CB, PPP3CC 💬 Dopaminergic synapse × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2	Tacrolimus 💬 Dopaminergic synapse × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 85. Dopaminergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
87	Drug metabolism - other enzymes 💬	[2] IMPDH1, IMPDH2 💬 Drug metabolism - other enzymes × Name Full Name IMPDH1 inosine-5'-monophosphate dehydrogenase 1 isoform e IMPDH2 inosine-5'-monophosphate dehydrogenase 2 isoform 2	Mycophenolate mofetil 💬 Drug metabolism - other enzymes × Name Other Names Mycophenolate mofetil Cellcept MYHIBBIN	Mycophenolate mofetil	[38]  2 , 11, 13, 19, 20, 28, 35, 36, 42, 43, 44, 45, 46, 49, 51, 53, 57, 60, 61, 62, 63, 65, 66, 93, 95, 96, 118, 162, 164, 222, 223, 224, 226, 234, 283, 284, 285, 300 💬 87. Drug metabolism - other enzymes × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
88	Drug metabolism - other enzymes 💬	[2] IMPDH1, IMPDH2 💬 Drug metabolism - other enzymes × Name Full Name IMPDH1 inosine-5'-monophosphate dehydrogenase 1 isoform e IMPDH2 inosine-5'-monophosphate dehydrogenase 2 isoform 2	Mycophenolate mofetil hydrochloride 💬 Drug metabolism - other enzymes × Name Other Names Mycophenolate mofetil hydrochloride Cellcept MYCOPHENOLATE MOFETIL	Mycophenolate mofetil	[38]  2 , 11, 13, 19, 20, 28, 35, 36, 42, 43, 44, 45, 46, 49, 51, 53, 57, 60, 61, 62, 63, 65, 66, 93, 95, 96, 118, 162, 164, 222, 223, 224, 226, 234, 283, 284, 285, 300 💬 87. Drug metabolism - other enzymes × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
89	Drug metabolism - other enzymes 💬	[1] RRM1 💬 Drug metabolism - other enzymes × Name Full Name RRM1 ribonucleoside-diphosphate reductase large subunit isoform 1	Fludarabine phosphate 💬 Drug metabolism - other enzymes × Name Other Names Fludarabine phosphate Fludara	Fludarabine	[30] 11, 13, 14, 16, 19, 28, 34, 35, 36, 44, 46, 49, 50, 51, 60, 61, 62, 63, 65, 85, 96, 107, 164, 222, 223, 283, 284, 285, 286, 326 💬 89. Drug metabolism - other enzymes × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
90	Drug metabolism - other enzymes 💬	[1] RRM1 💬 Drug metabolism - other enzymes × Name Full Name RRM1 ribonucleoside-diphosphate reductase large subunit isoform 1	Fludarabine 💬 Drug metabolism - other enzymes × Name Other Names Fludarabine Fluradosa	Fludarabine	[30] 11, 13, 14, 16, 19, 28, 34, 35, 36, 44, 46, 49, 50, 51, 60, 61, 62, 63, 65, 85, 96, 107, 164, 222, 223, 283, 284, 285, 286, 326 💬 89. Drug metabolism - other enzymes × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
91	Efferocytosis 💬	[1] P2RY12 💬 Efferocytosis × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel bisulfate 💬 Efferocytosis × Name Other Names Clopidogrel bisulfate Clopidogrel sulfate Clopidogrel sulfate tablets Clopidogrel hydrogen sulphate Isocover Plavix CLOPIDOGREL	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 91. Efferocytosis × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
92	Efferocytosis 💬	[1] P2RY12 💬 Efferocytosis × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel 💬 Efferocytosis × Name Other Names Clopidogrel Plavix	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 91. Efferocytosis × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
93	Efferocytosis 💬	[1] P2RY12 💬 Efferocytosis × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel hydrochloride 💬 Efferocytosis × Name Other Names Clopidogrel hydrochloride Clopidogrel hydrochloride	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 91. Efferocytosis × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
94	Efferocytosis 💬	[1] P2RY12 💬 Efferocytosis × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel besilate 💬 Efferocytosis × Name Other Names Clopidogrel besilate Clopidogrel besylate	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 91. Efferocytosis × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
95	Efferocytosis 💬	[1] PTGS2 💬 Efferocytosis × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Efferocytosis × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 95. Efferocytosis × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
96	Endocytosis 💬	[1] PML 💬 Endocytosis × Name Full Name PML protein PML isoform 1	Tretinoin 💬 Endocytosis × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 96. Endocytosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
97	ErbB signaling pathway 💬	[1] MTOR 💬 ErbB signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 ErbB signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 97. ErbB signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
98	Estrogen signaling pathway 💬	[1] RARA 💬 Estrogen signaling pathway × Name Full Name RARA retinoic acid receptor alpha isoform 1	Tretinoin 💬 Estrogen signaling pathway × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 98. Estrogen signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
99	Folate biosynthesis 💬	[2] DHFR, DHFR2 💬 Folate biosynthesis × Name Full Name DHFR dihydrofolate reductase isoform 1 DHFR2 dihydrofolate reductase 2, mitochondrial	Methotrexate 💬 Folate biosynthesis × Name Other Names Methotrexate Otrexup Xatmep JYLAMVO	Methotrexate	[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬 99. Folate biosynthesis × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 172 Hypophosphatasia; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 240 Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 270 Chronic recurrent multifocal osteomyelitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
100	Folate biosynthesis 💬	[2] DHFR, DHFR2 💬 Folate biosynthesis × Name Full Name DHFR dihydrofolate reductase isoform 1 DHFR2 dihydrofolate reductase 2, mitochondrial	Methotrexate sodium 💬 Folate biosynthesis × Name Other Names Methotrexate sodium Trexall Rasuvo METHOTREXATE	Methotrexate	[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬 99. Folate biosynthesis × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 172 Hypophosphatasia; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 240 Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 270 Chronic recurrent multifocal osteomyelitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
101	Folate transport and metabolism 💬	[2] DHFR, DHFR2 💬 Folate transport and metabolism × Name Full Name DHFR dihydrofolate reductase isoform 1 DHFR2 dihydrofolate reductase 2, mitochondrial	Methotrexate 💬 Folate transport and metabolism × Name Other Names Methotrexate Otrexup Xatmep JYLAMVO	Methotrexate	[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬 101. Folate transport and metabolism × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 172 Hypophosphatasia; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 240 Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 270 Chronic recurrent multifocal osteomyelitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
102	Folate transport and metabolism 💬	[2] DHFR, DHFR2 💬 Folate transport and metabolism × Name Full Name DHFR dihydrofolate reductase isoform 1 DHFR2 dihydrofolate reductase 2, mitochondrial	Methotrexate sodium 💬 Folate transport and metabolism × Name Other Names Methotrexate sodium Trexall Rasuvo METHOTREXATE	Methotrexate	[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬 101. Folate transport and metabolism × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 172 Hypophosphatasia; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 240 Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 270 Chronic recurrent multifocal osteomyelitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
103	Gastric cancer 💬	[1] MTOR 💬 Gastric cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Gastric cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 103. Gastric cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
104	Gastric cancer 💬	[1] RARB 💬 Gastric cancer × Name Full Name RARB retinoic acid receptor beta isoform 3	Tretinoin 💬 Gastric cancer × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 104. Gastric cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
105	Glioma 💬	[1] MTOR 💬 Glioma × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Glioma × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 105. Glioma × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
106	Glucagon signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Glucagon signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Glucagon signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 106. Glucagon signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
107	Glucagon signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Glucagon signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Glucagon signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 107. Glucagon signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
108	Glucagon signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Glucagon signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Glucagon signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 107. Glucagon signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
109	Glutamatergic synapse 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Glutamatergic synapse × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Glutamatergic synapse × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 109. Glutamatergic synapse × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
110	Glutamatergic synapse 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Glutamatergic synapse × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Glutamatergic synapse × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 110. Glutamatergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
111	Glutamatergic synapse 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Glutamatergic synapse × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Glutamatergic synapse × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 110. Glutamatergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
112	Glutathione metabolism 💬	[1] RRM1 💬 Glutathione metabolism × Name Full Name RRM1 ribonucleoside-diphosphate reductase large subunit isoform 1	Fludarabine phosphate 💬 Glutathione metabolism × Name Other Names Fludarabine phosphate Fludara	Fludarabine	[30] 11, 13, 14, 16, 19, 28, 34, 35, 36, 44, 46, 49, 50, 51, 60, 61, 62, 63, 65, 85, 96, 107, 164, 222, 223, 283, 284, 285, 286, 326 💬 112. Glutathione metabolism × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
113	Glutathione metabolism 💬	[1] RRM1 💬 Glutathione metabolism × Name Full Name RRM1 ribonucleoside-diphosphate reductase large subunit isoform 1	Fludarabine 💬 Glutathione metabolism × Name Other Names Fludarabine Fluradosa	Fludarabine	[30] 11, 13, 14, 16, 19, 28, 34, 35, 36, 44, 46, 49, 50, 51, 60, 61, 62, 63, 65, 85, 96, 107, 164, 222, 223, 283, 284, 285, 286, 326 💬 112. Glutathione metabolism × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
114	Glycerolipid metabolism 💬	[2] LIPC, LPL 💬 Glycerolipid metabolism × Name Full Name LIPC hepatic triacylglycerol lipase precursor LPL lipoprotein lipase precursor	Dextran sulfate sodium 💬 Glycerolipid metabolism × Name Other Names Dextran sulfate sodium MDS-Kowa A	Dextran	[5]  2 , 62, 79, 96, 97 💬 114. Glycerolipid metabolism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
115	Growth hormone synthesis, secretion and action 💬	[1] MTOR 💬 Growth hormone synthesis, secretion and action × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Growth hormone synthesis, secretion and action × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 115. Growth hormone synthesis, secretion and action × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
116	Hematopoietic cell lineage 💬	[1] CSF2RA 💬 Hematopoietic cell lineage × Name Full Name CSF2RA granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor	Sargramostim 💬 Hematopoietic cell lineage × Name Other Names Sargramostim Leukine Sargmalin	Sargramostim	[7]  6 , 28, 60, 62, 96, 229, 285 💬 116. Hematopoietic cell lineage × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 285 Fanconi anemia;
117	Hematopoietic cell lineage 💬	[1] CSF3R 💬 Hematopoietic cell lineage × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Filgrastim 💬 Hematopoietic cell lineage × Name Other Names Filgrastim Tbo-filgrastim Filgrastim-sndz Filgrastim-aafi Filgrastim-txid Filgrastim-laha Neupogen Nivestym Grastofil Zarxio FILKRI GRANIX NYPOZI RELEUKO	Filgrastim	[30]  2 ,  6 , 13, 25, 26, 28, 34, 35, 38, 40, 41, 42, 45, 46, 47, 49, 51, 60, 62, 63, 65, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬 117. Hematopoietic cell lineage × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 47 Buerger disease;Thromboangiitis obliterans; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
118	Hematopoietic cell lineage 💬	[1] MS4A1 💬 Hematopoietic cell lineage × Name Full Name MS4A1 B-lymphocyte antigen CD20	Rituximab 💬 Hematopoietic cell lineage × Name Other Names Rituximab Rituximab-abbs Rituximab-pvvr Rituximab-arrx Rituxan Riabni Truximab RUXIENCE TRUXIMA	Rituximab	[54] 11, 13, 14, 19, 26, 34, 35, 36, 40, 41, 42, 43, 44, 45, 46, 48, 49, 50, 51, 52, 53, 55, 56, 60, 61, 62, 63, 64, 65, 66, 83, 84, 85, 86, 88, 93, 94, 96, 97, 162, 172, 222, 223, 229, 256, 271, 274, 283, 284, 285, 288, 296, 300, 331 💬 118. Hematopoietic cell lineage × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 52 Mixed connective tissue disease; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 83 Addison disease;Primary chronic adrenocortical insufficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 88 Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 172 Hypophosphatasia; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 274 Osteogenesis Imperfecta; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 288 Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency; 296 Biliary atresia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
119	Hepatocellular carcinoma 💬	[1] MTOR 💬 Hepatocellular carcinoma × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Hepatocellular carcinoma × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 119. Hepatocellular carcinoma × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
120	Herpes simplex virus 1 infection 💬	[1] C3 💬 Herpes simplex virus 1 infection × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Herpes simplex virus 1 infection × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 120. Herpes simplex virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
121	Herpes simplex virus 1 infection 💬	[1] C5 💬 Herpes simplex virus 1 infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Herpes simplex virus 1 infection × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 121. Herpes simplex virus 1 infection × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
122	Herpes simplex virus 1 infection 💬	[1] C5 💬 Herpes simplex virus 1 infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Herpes simplex virus 1 infection × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 122. Herpes simplex virus 1 infection × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
123	Herpes simplex virus 1 infection 💬	[1] C5 💬 Herpes simplex virus 1 infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Herpes simplex virus 1 infection × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 123. Herpes simplex virus 1 infection × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
124	Herpes simplex virus 1 infection 💬	[1] C5 💬 Herpes simplex virus 1 infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Herpes simplex virus 1 infection × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 124. Herpes simplex virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
125	Herpes simplex virus 1 infection 💬	[1] C5 💬 Herpes simplex virus 1 infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Herpes simplex virus 1 infection × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 125. Herpes simplex virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
126	Herpes simplex virus 1 infection 💬	[1] C5 💬 Herpes simplex virus 1 infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Herpes simplex virus 1 infection × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 125. Herpes simplex virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
127	Herpes simplex virus 1 infection 💬	[1] MTOR 💬 Herpes simplex virus 1 infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Herpes simplex virus 1 infection × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 127. Herpes simplex virus 1 infection × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
128	Herpes simplex virus 1 infection 💬	[1] PML 💬 Herpes simplex virus 1 infection × Name Full Name PML protein PML isoform 1	Tretinoin 💬 Herpes simplex virus 1 infection × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 128. Herpes simplex virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
129	HIF-1 signaling pathway 💬	[1] MTOR 💬 HIF-1 signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 HIF-1 signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 129. HIF-1 signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
130	Human cytomegalovirus infection 💬	[1] MTOR 💬 Human cytomegalovirus infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Human cytomegalovirus infection × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 130. Human cytomegalovirus infection × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
131	Human cytomegalovirus infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Human cytomegalovirus infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Human cytomegalovirus infection × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 131. Human cytomegalovirus infection × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
132	Human cytomegalovirus infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Human cytomegalovirus infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Human cytomegalovirus infection × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 132. Human cytomegalovirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
133	Human cytomegalovirus infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Human cytomegalovirus infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Human cytomegalovirus infection × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 132. Human cytomegalovirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
134	Human cytomegalovirus infection 💬	[1] PTGS2 💬 Human cytomegalovirus infection × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Human cytomegalovirus infection × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 134. Human cytomegalovirus infection × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
135	Human immunodeficiency virus 1 infection 💬	[1] MTOR 💬 Human immunodeficiency virus 1 infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Human immunodeficiency virus 1 infection × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 135. Human immunodeficiency virus 1 infection × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
136	Human immunodeficiency virus 1 infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Human immunodeficiency virus 1 infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Human immunodeficiency virus 1 infection × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 136. Human immunodeficiency virus 1 infection × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
137	Human immunodeficiency virus 1 infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Human immunodeficiency virus 1 infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Human immunodeficiency virus 1 infection × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 137. Human immunodeficiency virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
138	Human immunodeficiency virus 1 infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Human immunodeficiency virus 1 infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Human immunodeficiency virus 1 infection × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 137. Human immunodeficiency virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
139	Human papillomavirus infection 💬	[1] MTOR 💬 Human papillomavirus infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Human papillomavirus infection × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 139. Human papillomavirus infection × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
140	Human papillomavirus infection 💬	[1] PTGS2 💬 Human papillomavirus infection × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Human papillomavirus infection × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 140. Human papillomavirus infection × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
141	Human T-cell leukemia virus 1 infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Human T-cell leukemia virus 1 infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Human T-cell leukemia virus 1 infection × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 141. Human T-cell leukemia virus 1 infection × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
142	Human T-cell leukemia virus 1 infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Human T-cell leukemia virus 1 infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Human T-cell leukemia virus 1 infection × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 142. Human T-cell leukemia virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
143	Human T-cell leukemia virus 1 infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Human T-cell leukemia virus 1 infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Human T-cell leukemia virus 1 infection × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 142. Human T-cell leukemia virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
144	Huntington disease 💬	[1] MTOR 💬 Huntington disease × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Huntington disease × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 144. Huntington disease × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
145	IL-17 signaling pathway 💬	[1] PTGS2 💬 IL-17 signaling pathway × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 IL-17 signaling pathway × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 145. IL-17 signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
146	Influenza A 💬	[1] PML 💬 Influenza A × Name Full Name PML protein PML isoform 1	Tretinoin 💬 Influenza A × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 146. Influenza A × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
147	Insulin resistance 💬	[1] MTOR 💬 Insulin resistance × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Insulin resistance × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 147. Insulin resistance × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
148	Insulin signaling pathway 💬	[1] MTOR 💬 Insulin signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Insulin signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 148. Insulin signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
149	Integrated stress response (ISR) signaling pathway 💬	[1] MTOR 💬 Integrated stress response (ISR) signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Integrated stress response (ISR) signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 149. Integrated stress response (ISR) signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
150	Integrin signaling 💬	[1] C3 💬 Integrin signaling × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Integrin signaling × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 150. Integrin signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
151	Integrin signaling 💬	[1] MTOR 💬 Integrin signaling × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Integrin signaling × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 151. Integrin signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
152	JAK-STAT signaling pathway 💬	[1] CSF2RA 💬 JAK-STAT signaling pathway × Name Full Name CSF2RA granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor	Sargramostim 💬 JAK-STAT signaling pathway × Name Other Names Sargramostim Leukine Sargmalin	Sargramostim	[7]  6 , 28, 60, 62, 96, 229, 285 💬 152. JAK-STAT signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 285 Fanconi anemia;
153	JAK-STAT signaling pathway 💬	[1] CSF3R 💬 JAK-STAT signaling pathway × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Filgrastim 💬 JAK-STAT signaling pathway × Name Other Names Filgrastim Tbo-filgrastim Filgrastim-sndz Filgrastim-aafi Filgrastim-txid Filgrastim-laha Neupogen Nivestym Grastofil Zarxio FILKRI GRANIX NYPOZI RELEUKO	Filgrastim	[30]  2 ,  6 , 13, 25, 26, 28, 34, 35, 38, 40, 41, 42, 45, 46, 47, 49, 51, 60, 62, 63, 65, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬 153. JAK-STAT signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 47 Buerger disease;Thromboangiitis obliterans; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
154	JAK-STAT signaling pathway 💬	[1] MTOR 💬 JAK-STAT signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 JAK-STAT signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 154. JAK-STAT signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
155	Kaposi sarcoma-associated herpesvirus infection 💬	[1] C3 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 155. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
156	Kaposi sarcoma-associated herpesvirus infection 💬	[1] MTOR 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 156. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
157	Kaposi sarcoma-associated herpesvirus infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 157. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
158	Kaposi sarcoma-associated herpesvirus infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 158. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
159	Kaposi sarcoma-associated herpesvirus infection 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 158. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
160	Kaposi sarcoma-associated herpesvirus infection 💬	[1] PTGS2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 160. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
161	Legionellosis 💬	[1] C3 💬 Legionellosis × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Legionellosis × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 161. Legionellosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
162	Leishmaniasis 💬	[1] C3 💬 Leishmaniasis × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Leishmaniasis × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 162. Leishmaniasis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
163	Leishmaniasis 💬	[1] PTGS2 💬 Leishmaniasis × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Leishmaniasis × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 163. Leishmaniasis × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
164	Lipid and atherosclerosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Lipid and atherosclerosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Lipid and atherosclerosis × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 164. Lipid and atherosclerosis × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
165	Lipid and atherosclerosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Lipid and atherosclerosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Lipid and atherosclerosis × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 165. Lipid and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
166	Lipid and atherosclerosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Lipid and atherosclerosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Lipid and atherosclerosis × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 165. Lipid and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
167	Long-term potentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Long-term potentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Long-term potentiation × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 167. Long-term potentiation × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
168	Long-term potentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Long-term potentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Long-term potentiation × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 168. Long-term potentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
169	Long-term potentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Long-term potentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Long-term potentiation × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 168. Long-term potentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
170	Longevity regulating pathway 💬	[1] MTOR 💬 Longevity regulating pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Longevity regulating pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 170. Longevity regulating pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
171	Longevity regulating pathway - multiple species 💬	[1] MTOR 💬 Longevity regulating pathway - multiple species × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Longevity regulating pathway - multiple species × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 171. Longevity regulating pathway - multiple species × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
172	Lysosome biogenesis 💬	[1] MTOR 💬 Lysosome biogenesis × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Lysosome biogenesis × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 172. Lysosome biogenesis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
173	MAPK signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 MAPK signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 MAPK signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 173. MAPK signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
174	MAPK signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 MAPK signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 MAPK signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 174. MAPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
175	MAPK signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 MAPK signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 MAPK signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 174. MAPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
176	MicroRNAs in cancer 💬	[1] MTOR 💬 MicroRNAs in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 MicroRNAs in cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 176. MicroRNAs in cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
177	MicroRNAs in cancer 💬	[1] PTGS2 💬 MicroRNAs in cancer × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 MicroRNAs in cancer × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 177. MicroRNAs in cancer × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
178	mTOR signaling pathway 💬	[1] MTOR 💬 mTOR signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 mTOR signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 178. mTOR signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
179	Natural killer cell mediated cytotoxicity 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Natural killer cell mediated cytotoxicity × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Natural killer cell mediated cytotoxicity × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 179. Natural killer cell mediated cytotoxicity × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
180	Natural killer cell mediated cytotoxicity 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Natural killer cell mediated cytotoxicity × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Natural killer cell mediated cytotoxicity × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 180. Natural killer cell mediated cytotoxicity × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
181	Natural killer cell mediated cytotoxicity 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Natural killer cell mediated cytotoxicity × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Natural killer cell mediated cytotoxicity × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 180. Natural killer cell mediated cytotoxicity × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
182	Neuroactive ligand signaling 💬	[1] P2RY12 💬 Neuroactive ligand signaling × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel bisulfate 💬 Neuroactive ligand signaling × Name Other Names Clopidogrel bisulfate Clopidogrel sulfate Clopidogrel sulfate tablets Clopidogrel hydrogen sulphate Isocover Plavix CLOPIDOGREL	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 182. Neuroactive ligand signaling × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
183	Neuroactive ligand signaling 💬	[1] P2RY12 💬 Neuroactive ligand signaling × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel 💬 Neuroactive ligand signaling × Name Other Names Clopidogrel Plavix	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 182. Neuroactive ligand signaling × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
184	Neuroactive ligand signaling 💬	[1] P2RY12 💬 Neuroactive ligand signaling × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Clopidogrel hydrochloride Clopidogrel hydrochloride	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 182. Neuroactive ligand signaling × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
185	Neuroactive ligand signaling 💬	[1] P2RY12 💬 Neuroactive ligand signaling × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel besilate 💬 Neuroactive ligand signaling × Name Other Names Clopidogrel besilate Clopidogrel besylate	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 182. Neuroactive ligand signaling × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
186	Neuroactive ligand-receptor interaction 💬	[1] C3 💬 Neuroactive ligand-receptor interaction × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Neuroactive ligand-receptor interaction × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 186. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
187	Neuroactive ligand-receptor interaction 💬	[1] C5 💬 Neuroactive ligand-receptor interaction × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Neuroactive ligand-receptor interaction × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 187. Neuroactive ligand-receptor interaction × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
188	Neuroactive ligand-receptor interaction 💬	[1] C5 💬 Neuroactive ligand-receptor interaction × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Neuroactive ligand-receptor interaction × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 188. Neuroactive ligand-receptor interaction × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
189	Neuroactive ligand-receptor interaction 💬	[1] C5 💬 Neuroactive ligand-receptor interaction × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Neuroactive ligand-receptor interaction × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 189. Neuroactive ligand-receptor interaction × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
190	Neuroactive ligand-receptor interaction 💬	[1] C5 💬 Neuroactive ligand-receptor interaction × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Neuroactive ligand-receptor interaction × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 190. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
191	Neuroactive ligand-receptor interaction 💬	[1] C5 💬 Neuroactive ligand-receptor interaction × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Neuroactive ligand-receptor interaction × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 191. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
192	Neuroactive ligand-receptor interaction 💬	[1] C5 💬 Neuroactive ligand-receptor interaction × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Neuroactive ligand-receptor interaction × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 191. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
193	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Methylprednisolone 💬 Neuroactive ligand-receptor interaction × Name Other Names Methylprednisolone Medrol	Methylprednisolone	[51]  2 ,  6 , 11, 13, 14, 18, 19, 25, 26, 35, 38, 39, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 60, 62, 63, 64, 65, 66, 83, 84, 85, 86, 93, 95, 96, 97, 111, 127, 145, 162, 164, 211, 222, 223, 224, 271, 283, 284, 285, 296, 300 💬 193. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 39 Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 83 Addison disease;Primary chronic adrenocortical insufficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 211 Hypoplastic left heart syndrome;HLHS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
194	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Methylprednisolone acetate 💬 Neuroactive ligand-receptor interaction × Name Other Names Methylprednisolone acetate Depo-medrol	Methylprednisolone	[51]  2 ,  6 , 11, 13, 14, 18, 19, 25, 26, 35, 38, 39, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 60, 62, 63, 64, 65, 66, 83, 84, 85, 86, 93, 95, 96, 97, 111, 127, 145, 162, 164, 211, 222, 223, 224, 271, 283, 284, 285, 296, 300 💬 193. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 39 Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 83 Addison disease;Primary chronic adrenocortical insufficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 211 Hypoplastic left heart syndrome;HLHS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
195	Neutrophil extracellular trap formation 💬	[1] C3 💬 Neutrophil extracellular trap formation × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Neutrophil extracellular trap formation × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 195. Neutrophil extracellular trap formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
196	Neutrophil extracellular trap formation 💬	[1] C5 💬 Neutrophil extracellular trap formation × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Neutrophil extracellular trap formation × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 196. Neutrophil extracellular trap formation × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
197	Neutrophil extracellular trap formation 💬	[1] C5 💬 Neutrophil extracellular trap formation × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Neutrophil extracellular trap formation × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 197. Neutrophil extracellular trap formation × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
198	Neutrophil extracellular trap formation 💬	[1] C5 💬 Neutrophil extracellular trap formation × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Neutrophil extracellular trap formation × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 198. Neutrophil extracellular trap formation × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
199	Neutrophil extracellular trap formation 💬	[1] C5 💬 Neutrophil extracellular trap formation × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Neutrophil extracellular trap formation × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 199. Neutrophil extracellular trap formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
200	Neutrophil extracellular trap formation 💬	[1] C5 💬 Neutrophil extracellular trap formation × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Neutrophil extracellular trap formation × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 200. Neutrophil extracellular trap formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
201	Neutrophil extracellular trap formation 💬	[1] C5 💬 Neutrophil extracellular trap formation × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Neutrophil extracellular trap formation × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 200. Neutrophil extracellular trap formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
202	Neutrophil extracellular trap formation 💬	[1] MTOR 💬 Neutrophil extracellular trap formation × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Neutrophil extracellular trap formation × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 202. Neutrophil extracellular trap formation × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
203	NF-kappa B signaling pathway 💬	[1] PTGS2 💬 NF-kappa B signaling pathway × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 NF-kappa B signaling pathway × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 203. NF-kappa B signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
204	Non-small cell lung cancer 💬	[1] RARB 💬 Non-small cell lung cancer × Name Full Name RARB retinoic acid receptor beta isoform 3	Tretinoin 💬 Non-small cell lung cancer × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 204. Non-small cell lung cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
205	One carbon pool by folate 💬	[2] DHFR, DHFR2 💬 One carbon pool by folate × Name Full Name DHFR dihydrofolate reductase isoform 1 DHFR2 dihydrofolate reductase 2, mitochondrial	Methotrexate 💬 One carbon pool by folate × Name Other Names Methotrexate Otrexup Xatmep JYLAMVO	Methotrexate	[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬 205. One carbon pool by folate × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 172 Hypophosphatasia; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 240 Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 270 Chronic recurrent multifocal osteomyelitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
206	One carbon pool by folate 💬	[2] DHFR, DHFR2 💬 One carbon pool by folate × Name Full Name DHFR dihydrofolate reductase isoform 1 DHFR2 dihydrofolate reductase 2, mitochondrial	Methotrexate sodium 💬 One carbon pool by folate × Name Other Names Methotrexate sodium Trexall Rasuvo METHOTREXATE	Methotrexate	[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬 205. One carbon pool by folate × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 172 Hypophosphatasia; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 240 Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 270 Chronic recurrent multifocal osteomyelitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
207	Oocyte meiosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Oocyte meiosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Oocyte meiosis × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 207. Oocyte meiosis × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
208	Oocyte meiosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Oocyte meiosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Oocyte meiosis × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 208. Oocyte meiosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
209	Oocyte meiosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Oocyte meiosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Oocyte meiosis × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 208. Oocyte meiosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
210	Osteoclast differentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Osteoclast differentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Osteoclast differentiation × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 210. Osteoclast differentiation × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
211	Osteoclast differentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Osteoclast differentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Osteoclast differentiation × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 211. Osteoclast differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
212	Osteoclast differentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Osteoclast differentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Osteoclast differentiation × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 211. Osteoclast differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
213	Ovarian steroidogenesis 💬	[1] PTGS2 💬 Ovarian steroidogenesis × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Ovarian steroidogenesis × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 213. Ovarian steroidogenesis × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
214	Oxytocin signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Oxytocin signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Oxytocin signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 214. Oxytocin signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
215	Oxytocin signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Oxytocin signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Oxytocin signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 215. Oxytocin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
216	Oxytocin signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Oxytocin signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Oxytocin signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 215. Oxytocin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
217	Oxytocin signaling pathway 💬	[1] PTGS2 💬 Oxytocin signaling pathway × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Oxytocin signaling pathway × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 217. Oxytocin signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
218	Pancreatic cancer 💬	[1] MTOR 💬 Pancreatic cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Pancreatic cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 218. Pancreatic cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
219	Pathways in cancer 💬	[1] CSF2RA 💬 Pathways in cancer × Name Full Name CSF2RA granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor	Sargramostim 💬 Pathways in cancer × Name Other Names Sargramostim Leukine Sargmalin	Sargramostim	[7]  6 , 28, 60, 62, 96, 229, 285 💬 219. Pathways in cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 285 Fanconi anemia;
220	Pathways in cancer 💬	[1] CSF3R 💬 Pathways in cancer × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Filgrastim 💬 Pathways in cancer × Name Other Names Filgrastim Tbo-filgrastim Filgrastim-sndz Filgrastim-aafi Filgrastim-txid Filgrastim-laha Neupogen Nivestym Grastofil Zarxio FILKRI GRANIX NYPOZI RELEUKO	Filgrastim	[30]  2 ,  6 , 13, 25, 26, 28, 34, 35, 38, 40, 41, 42, 45, 46, 47, 49, 51, 60, 62, 63, 65, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬 220. Pathways in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 47 Buerger disease;Thromboangiitis obliterans; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
221	Pathways in cancer 💬	[1] MTOR 💬 Pathways in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Pathways in cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 221. Pathways in cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
222	Pathways in cancer 💬	[3] PML, RARA, RARB 💬 Pathways in cancer × Name Full Name PML protein PML isoform 1 RARA retinoic acid receptor alpha isoform 1 RARB retinoic acid receptor beta isoform 3	Tretinoin 💬 Pathways in cancer × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 222. Pathways in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
223	Pathways in cancer 💬	[1] PTGS2 💬 Pathways in cancer × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Pathways in cancer × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 223. Pathways in cancer × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
224	Pathways of neurodegeneration - multiple diseases 💬	[1] MTOR 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 224. Pathways of neurodegeneration - multiple diseases × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
225	Pathways of neurodegeneration - multiple diseases 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 225. Pathways of neurodegeneration - multiple diseases × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
226	Pathways of neurodegeneration - multiple diseases 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 226. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
227	Pathways of neurodegeneration - multiple diseases 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 226. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
228	Pathways of neurodegeneration - multiple diseases 💬	[1] PTGS2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 228. Pathways of neurodegeneration - multiple diseases × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
229	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[1] MTOR 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 229. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
230	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 230. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
231	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 231. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
232	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 231. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
233	Pertussis 💬	[1] C3 💬 Pertussis × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Pertussis × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 233. Pertussis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
234	Pertussis 💬	[1] C5 💬 Pertussis × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Pertussis × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 234. Pertussis × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
235	Pertussis 💬	[1] C5 💬 Pertussis × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Pertussis × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 235. Pertussis × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
236	Pertussis 💬	[1] C5 💬 Pertussis × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Pertussis × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 236. Pertussis × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
237	Pertussis 💬	[1] C5 💬 Pertussis × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Pertussis × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 237. Pertussis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
238	Pertussis 💬	[1] C5 💬 Pertussis × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Pertussis × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 238. Pertussis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
239	Pertussis 💬	[1] C5 💬 Pertussis × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Pertussis × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 238. Pertussis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
240	Phagocytosis 💬	[1] C3 💬 Phagocytosis × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Phagocytosis × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 240. Phagocytosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
241	Phospholipase D signaling pathway 💬	[1] MTOR 💬 Phospholipase D signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Phospholipase D signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 241. Phospholipase D signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
242	PI3K-Akt signaling pathway 💬	[1] CSF3R 💬 PI3K-Akt signaling pathway × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Filgrastim 💬 PI3K-Akt signaling pathway × Name Other Names Filgrastim Tbo-filgrastim Filgrastim-sndz Filgrastim-aafi Filgrastim-txid Filgrastim-laha Neupogen Nivestym Grastofil Zarxio FILKRI GRANIX NYPOZI RELEUKO	Filgrastim	[30]  2 ,  6 , 13, 25, 26, 28, 34, 35, 38, 40, 41, 42, 45, 46, 47, 49, 51, 60, 62, 63, 65, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬 242. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 47 Buerger disease;Thromboangiitis obliterans; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
243	PI3K-Akt signaling pathway 💬	[1] MTOR 💬 PI3K-Akt signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 PI3K-Akt signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 243. PI3K-Akt signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
244	Platelet activation 💬	[1] P2RY12 💬 Platelet activation × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel bisulfate 💬 Platelet activation × Name Other Names Clopidogrel bisulfate Clopidogrel sulfate Clopidogrel sulfate tablets Clopidogrel hydrogen sulphate Isocover Plavix CLOPIDOGREL	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 244. Platelet activation × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
245	Platelet activation 💬	[1] P2RY12 💬 Platelet activation × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel 💬 Platelet activation × Name Other Names Clopidogrel Plavix	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 244. Platelet activation × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
246	Platelet activation 💬	[1] P2RY12 💬 Platelet activation × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel hydrochloride 💬 Platelet activation × Name Other Names Clopidogrel hydrochloride Clopidogrel hydrochloride	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 244. Platelet activation × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
247	Platelet activation 💬	[1] P2RY12 💬 Platelet activation × Name Full Name P2RY12 P2Y purinoceptor 12	Clopidogrel besilate 💬 Platelet activation × Name Other Names Clopidogrel besilate Clopidogrel besylate	Clopidogrel	[7] 40, 49, 51, 62, 71, 86, 222 💬 244. Platelet activation × Disease ID Name 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 71 Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head; 86 Pulmonary arterial hypertension;PAH; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
248	Platelet activation 💬	[1] PTGS1 💬 Platelet activation × Name Full Name PTGS1 prostaglandin G/H synthase 1 isoform 1 precursor	Aspirin 💬 Platelet activation × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 248. Platelet activation × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
249	PPAR signaling pathway 💬	[1] LPL 💬 PPAR signaling pathway × Name Full Name LPL lipoprotein lipase precursor	Dextran sulfate sodium 💬 PPAR signaling pathway × Name Other Names Dextran sulfate sodium MDS-Kowa A	Dextran	[5]  2 , 62, 79, 96, 97 💬 249. PPAR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
250	Prion disease 💬	[1] C5 💬 Prion disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Prion disease × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 250. Prion disease × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
251	Prion disease 💬	[1] C5 💬 Prion disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Prion disease × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 251. Prion disease × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
252	Prion disease 💬	[1] C5 💬 Prion disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Prion disease × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 252. Prion disease × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
253	Prion disease 💬	[1] C5 💬 Prion disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Prion disease × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 253. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
254	Prion disease 💬	[1] C5 💬 Prion disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Prion disease × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 254. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
255	Prion disease 💬	[1] C5 💬 Prion disease × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Prion disease × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 254. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
256	Prion disease 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Prion disease × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Prion disease × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 256. Prion disease × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
257	Prion disease 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Prion disease × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Prion disease × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 257. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
258	Prion disease 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Prion disease × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Prion disease × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 257. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
259	Prostate cancer 💬	[1] MTOR 💬 Prostate cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Prostate cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 259. Prostate cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
260	Proteoglycans in cancer 💬	[1] MTOR 💬 Proteoglycans in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Proteoglycans in cancer × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 260. Proteoglycans in cancer × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
261	Purine metabolism 💬	[2] IMPDH1, IMPDH2 💬 Purine metabolism × Name Full Name IMPDH1 inosine-5'-monophosphate dehydrogenase 1 isoform e IMPDH2 inosine-5'-monophosphate dehydrogenase 2 isoform 2	Mycophenolate mofetil 💬 Purine metabolism × Name Other Names Mycophenolate mofetil Cellcept MYHIBBIN	Mycophenolate mofetil	[38]  2 , 11, 13, 19, 20, 28, 35, 36, 42, 43, 44, 45, 46, 49, 51, 53, 57, 60, 61, 62, 63, 65, 66, 93, 95, 96, 118, 162, 164, 222, 223, 224, 226, 234, 283, 284, 285, 300 💬 261. Purine metabolism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
262	Purine metabolism 💬	[2] IMPDH1, IMPDH2 💬 Purine metabolism × Name Full Name IMPDH1 inosine-5'-monophosphate dehydrogenase 1 isoform e IMPDH2 inosine-5'-monophosphate dehydrogenase 2 isoform 2	Mycophenolate mofetil hydrochloride 💬 Purine metabolism × Name Other Names Mycophenolate mofetil hydrochloride Cellcept MYCOPHENOLATE MOFETIL	Mycophenolate mofetil	[38]  2 , 11, 13, 19, 20, 28, 35, 36, 42, 43, 44, 45, 46, 49, 51, 53, 57, 60, 61, 62, 63, 65, 66, 93, 95, 96, 118, 162, 164, 222, 223, 224, 226, 234, 283, 284, 285, 300 💬 261. Purine metabolism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
263	Purine metabolism 💬	[1] RRM1 💬 Purine metabolism × Name Full Name RRM1 ribonucleoside-diphosphate reductase large subunit isoform 1	Fludarabine phosphate 💬 Purine metabolism × Name Other Names Fludarabine phosphate Fludara	Fludarabine	[30] 11, 13, 14, 16, 19, 28, 34, 35, 36, 44, 46, 49, 50, 51, 60, 61, 62, 63, 65, 85, 96, 107, 164, 222, 223, 283, 284, 285, 286, 326 💬 263. Purine metabolism × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
264	Purine metabolism 💬	[1] RRM1 💬 Purine metabolism × Name Full Name RRM1 ribonucleoside-diphosphate reductase large subunit isoform 1	Fludarabine 💬 Purine metabolism × Name Other Names Fludarabine Fluradosa	Fludarabine	[30] 11, 13, 14, 16, 19, 28, 34, 35, 36, 44, 46, 49, 50, 51, 60, 61, 62, 63, 65, 85, 96, 107, 164, 222, 223, 283, 284, 285, 286, 326 💬 263. Purine metabolism × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
265	Pyrimidine metabolism 💬	[1] RRM1 💬 Pyrimidine metabolism × Name Full Name RRM1 ribonucleoside-diphosphate reductase large subunit isoform 1	Fludarabine phosphate 💬 Pyrimidine metabolism × Name Other Names Fludarabine phosphate Fludara	Fludarabine	[30] 11, 13, 14, 16, 19, 28, 34, 35, 36, 44, 46, 49, 50, 51, 60, 61, 62, 63, 65, 85, 96, 107, 164, 222, 223, 283, 284, 285, 286, 326 💬 265. Pyrimidine metabolism × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
266	Pyrimidine metabolism 💬	[1] RRM1 💬 Pyrimidine metabolism × Name Full Name RRM1 ribonucleoside-diphosphate reductase large subunit isoform 1	Fludarabine 💬 Pyrimidine metabolism × Name Other Names Fludarabine Fluradosa	Fludarabine	[30] 11, 13, 14, 16, 19, 28, 34, 35, 36, 44, 46, 49, 50, 51, 60, 61, 62, 63, 65, 85, 96, 107, 164, 222, 223, 283, 284, 285, 286, 326 💬 265. Pyrimidine metabolism × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
267	Regulation of actin cytoskeleton 💬	[1] C5 💬 Regulation of actin cytoskeleton × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Regulation of actin cytoskeleton × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 267. Regulation of actin cytoskeleton × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
268	Regulation of actin cytoskeleton 💬	[1] C5 💬 Regulation of actin cytoskeleton × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Regulation of actin cytoskeleton × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 268. Regulation of actin cytoskeleton × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
269	Regulation of actin cytoskeleton 💬	[1] C5 💬 Regulation of actin cytoskeleton × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Regulation of actin cytoskeleton × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 269. Regulation of actin cytoskeleton × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
270	Regulation of actin cytoskeleton 💬	[1] C5 💬 Regulation of actin cytoskeleton × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Regulation of actin cytoskeleton × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 270. Regulation of actin cytoskeleton × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
271	Regulation of actin cytoskeleton 💬	[1] C5 💬 Regulation of actin cytoskeleton × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Regulation of actin cytoskeleton × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 271. Regulation of actin cytoskeleton × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
272	Regulation of actin cytoskeleton 💬	[1] C5 💬 Regulation of actin cytoskeleton × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Regulation of actin cytoskeleton × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 271. Regulation of actin cytoskeleton × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
273	Regulation of lipolysis in adipocytes 💬	[2] PTGS1, PTGS2 💬 Regulation of lipolysis in adipocytes × Name Full Name PTGS1 prostaglandin G/H synthase 1 isoform 1 precursor PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Regulation of lipolysis in adipocytes × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 273. Regulation of lipolysis in adipocytes × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
274	Renin secretion 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Renin secretion × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Renin secretion × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 274. Renin secretion × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
275	Renin secretion 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Renin secretion × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Renin secretion × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 275. Renin secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
276	Renin secretion 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Renin secretion × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Renin secretion × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 275. Renin secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
277	Retrograde endocannabinoid signaling 💬	[1] PTGS2 💬 Retrograde endocannabinoid signaling × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Retrograde endocannabinoid signaling × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 277. Retrograde endocannabinoid signaling × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
278	Serotonergic synapse 💬	[2] PTGS1, PTGS2 💬 Serotonergic synapse × Name Full Name PTGS1 prostaglandin G/H synthase 1 isoform 1 precursor PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Serotonergic synapse × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 278. Serotonergic synapse × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
279	Shigellosis 💬	[1] C3 💬 Shigellosis × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Shigellosis × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 279. Shigellosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
280	Shigellosis 💬	[1] MTOR 💬 Shigellosis × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Shigellosis × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 280. Shigellosis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
281	Small cell lung cancer 💬	[1] PTGS2 💬 Small cell lung cancer × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 Small cell lung cancer × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 281. Small cell lung cancer × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
282	Small cell lung cancer 💬	[1] RARB 💬 Small cell lung cancer × Name Full Name RARB retinoic acid receptor beta isoform 3	Tretinoin 💬 Small cell lung cancer × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 282. Small cell lung cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
283	Spinocerebellar ataxia 💬	[1] MTOR 💬 Spinocerebellar ataxia × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Spinocerebellar ataxia × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 283. Spinocerebellar ataxia × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
284	Staphylococcus aureus infection 💬	[1] C3 💬 Staphylococcus aureus infection × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Staphylococcus aureus infection × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 284. Staphylococcus aureus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
285	Staphylococcus aureus infection 💬	[1] C5 💬 Staphylococcus aureus infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Staphylococcus aureus infection × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 285. Staphylococcus aureus infection × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
286	Staphylococcus aureus infection 💬	[1] C5 💬 Staphylococcus aureus infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Staphylococcus aureus infection × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 286. Staphylococcus aureus infection × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
287	Staphylococcus aureus infection 💬	[1] C5 💬 Staphylococcus aureus infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Staphylococcus aureus infection × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 287. Staphylococcus aureus infection × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
288	Staphylococcus aureus infection 💬	[1] C5 💬 Staphylococcus aureus infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Staphylococcus aureus infection × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 288. Staphylococcus aureus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
289	Staphylococcus aureus infection 💬	[1] C5 💬 Staphylococcus aureus infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Staphylococcus aureus infection × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 289. Staphylococcus aureus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
290	Staphylococcus aureus infection 💬	[1] C5 💬 Staphylococcus aureus infection × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Staphylococcus aureus infection × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 289. Staphylococcus aureus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
291	Staphylococcus aureus infection 💬	[1] CFB 💬 Staphylococcus aureus infection × Name Full Name CFB complement factor B preproprotein	Iptacopan 💬 Staphylococcus aureus infection × Name Other Names Iptacopan Iptacopan	Iptacopan	[8] 11, 61, 62, 63, 66, 109, 222, 223 💬 291. Staphylococcus aureus infection × Disease ID Name 11 Myasthenia gravis;MG; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
292	Staphylococcus aureus infection 💬	[1] CFB 💬 Staphylococcus aureus infection × Name Full Name CFB complement factor B preproprotein	Iptacopan hydrochloride 💬 Staphylococcus aureus infection × Name Other Names Iptacopan hydrochloride Iptacopan hydrochloride hydrate Iptacopan hydrochloride monohydrate Fabhalta	Iptacopan	[8] 11, 61, 62, 63, 66, 109, 222, 223 💬 291. Staphylococcus aureus infection × Disease ID Name 11 Myasthenia gravis;MG; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
293	Staphylococcus aureus infection 💬	[1] CFD 💬 Staphylococcus aureus infection × Name Full Name CFD complement factor D isoform 1 preproprotein	Danicopan 💬 Staphylococcus aureus infection × Name Other Names Danicopan Voydeya	Danicopan	[2] 62, 223 💬 293. Staphylococcus aureus infection × Disease ID Name 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
294	Systemic lupus erythematosus 💬	[1] C3 💬 Systemic lupus erythematosus × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Systemic lupus erythematosus × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 294. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
295	Systemic lupus erythematosus 💬	[1] C5 💬 Systemic lupus erythematosus × Name Full Name C5 complement C5 isoform 1 preproprotein	Crovalimab 💬 Systemic lupus erythematosus × Name Other Names Crovalimab Crovalimab-akkz Piasky	Crovalimab	[3] 48, 62, 109 💬 295. Systemic lupus erythematosus × Disease ID Name 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS;
296	Systemic lupus erythematosus 💬	[1] C5 💬 Systemic lupus erythematosus × Name Full Name C5 complement C5 isoform 1 preproprotein	Eculizumab 💬 Systemic lupus erythematosus × Name Other Names Eculizumab Eculizumab-aagh Eculizumab-aeeb Soliris Bkemv Epysqli	Eculizumab	[8] 11, 13, 14, 61, 62, 109, 221, 223 💬 296. Systemic lupus erythematosus × Disease ID Name 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 221 Anti-glomerular basement membrane disease;Goodpasture syndrome;Glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
297	Systemic lupus erythematosus 💬	[1] C5 💬 Systemic lupus erythematosus × Name Full Name C5 complement C5 isoform 1 preproprotein	Pozelimab 💬 Systemic lupus erythematosus × Name Other Names Pozelimab Pozelimab-bbfg Veopoz	Pozelimab	[3] 11, 15, 62 💬 297. Systemic lupus erythematosus × Disease ID Name 11 Myasthenia gravis;MG; 15 Inclusion body myositis; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
298	Systemic lupus erythematosus 💬	[1] C5 💬 Systemic lupus erythematosus × Name Full Name C5 complement C5 isoform 1 preproprotein	Ravulizumab 💬 Systemic lupus erythematosus × Name Other Names Ravulizumab Ultomiris	Ravulizumab	[8]  2 , 11, 13, 50, 62, 66, 109, 224 💬 298. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 109 Atypical hemolytic uremic syndrome;Atypical HUS;aHUS; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
299	Systemic lupus erythematosus 💬	[1] C5 💬 Systemic lupus erythematosus × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan sodium 💬 Systemic lupus erythematosus × Name Other Names Zilucoplan sodium Zilbrysq	Zilucoplan	[3]  2 , 11, 62 💬 299. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
300	Systemic lupus erythematosus 💬	[1] C5 💬 Systemic lupus erythematosus × Name Full Name C5 complement C5 isoform 1 preproprotein	Zilucoplan 💬 Systemic lupus erythematosus × Name Other Names Zilucoplan Zilucoplan	Zilucoplan	[3]  2 , 11, 62 💬 299. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 62 Paroxysmal nocturnal hemoglobinuria;PNH;
301	T cell receptor signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 T cell receptor signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 T cell receptor signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 301. T cell receptor signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
302	T cell receptor signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 T cell receptor signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 T cell receptor signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 302. T cell receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
303	T cell receptor signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 T cell receptor signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 T cell receptor signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 302. T cell receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
304	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin calcium 💬 Terpenoid backbone biosynthesis × Name Other Names Rosuvastatin calcium ZD 4522 Crestor ROSUVASTAIN CALCIUM ROSUVASTATIN ROSUVSTATIN	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 304. Terpenoid backbone biosynthesis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
305	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin 💬 Terpenoid backbone biosynthesis × Name Other Names Rosuvastatin Creston	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 304. Terpenoid backbone biosynthesis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
306	Th1 and Th2 cell differentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Th1 and Th2 cell differentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Th1 and Th2 cell differentiation × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 306. Th1 and Th2 cell differentiation × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
307	Th1 and Th2 cell differentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Th1 and Th2 cell differentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Th1 and Th2 cell differentiation × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 307. Th1 and Th2 cell differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
308	Th1 and Th2 cell differentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Th1 and Th2 cell differentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Th1 and Th2 cell differentiation × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 307. Th1 and Th2 cell differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
309	Th17 cell differentiation 💬	[1] MTOR 💬 Th17 cell differentiation × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Th17 cell differentiation × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 309. Th17 cell differentiation × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
310	Th17 cell differentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Th17 cell differentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Th17 cell differentiation × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 310. Th17 cell differentiation × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
311	Th17 cell differentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Th17 cell differentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Th17 cell differentiation × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 311. Th17 cell differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
312	Th17 cell differentiation 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Th17 cell differentiation × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Th17 cell differentiation × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 311. Th17 cell differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
313	Th17 cell differentiation 💬	[1] RARA 💬 Th17 cell differentiation × Name Full Name RARA retinoic acid receptor alpha isoform 1	Tretinoin 💬 Th17 cell differentiation × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 313. Th17 cell differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
314	Thermogenesis 💬	[1] MTOR 💬 Thermogenesis × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Thermogenesis × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 314. Thermogenesis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
315	Thyroid hormone signaling pathway 💬	[1] MTOR 💬 Thyroid hormone signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Thyroid hormone signaling pathway × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 315. Thyroid hormone signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
316	TNF signaling pathway 💬	[1] PTGS2 💬 TNF signaling pathway × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 TNF signaling pathway × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 316. TNF signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
317	Transcriptional misregulation in cancer 💬	[2] PML, RARA 💬 Transcriptional misregulation in cancer × Name Full Name PML protein PML isoform 1 RARA retinoic acid receptor alpha isoform 1	Tretinoin 💬 Transcriptional misregulation in cancer × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 317. Transcriptional misregulation in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
318	Tuberculosis 💬	[1] C3 💬 Tuberculosis × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Tuberculosis × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 318. Tuberculosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
319	Tuberculosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Tuberculosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Tuberculosis × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 319. Tuberculosis × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
320	Tuberculosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Tuberculosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Tuberculosis × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 320. Tuberculosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
321	Tuberculosis 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Tuberculosis × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Tuberculosis × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 320. Tuberculosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
322	Type II diabetes mellitus 💬	[1] MTOR 💬 Type II diabetes mellitus × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Sirolimus 💬 Type II diabetes mellitus × Name Other Names Sirolimus Rapamune Rapamycin FYARRO HYFTOR	Sirolimus	[46]  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 322. Type II diabetes mellitus × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 35 Pemphigus; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 277 Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 281 Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
323	Ubiquitin mediated proteolysis 💬	[1] PML 💬 Ubiquitin mediated proteolysis × Name Full Name PML protein PML isoform 1	Tretinoin 💬 Ubiquitin mediated proteolysis × Name Other Names Tretinoin Avita Renova Retin A ALTRENO ATRALIN RETIN-A RETIN-A MICRO TRETINOIN CREAM	Tretinoin	[4]  2 , 62, 63, 75 💬 323. Ubiquitin mediated proteolysis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 75 Cushing disease;Cushing syndrome;
324	VEGF signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 VEGF signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 VEGF signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 324. VEGF signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
325	VEGF signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 VEGF signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 VEGF signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 325. VEGF signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
326	VEGF signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 VEGF signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 VEGF signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 325. VEGF signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
327	VEGF signaling pathway 💬	[1] PTGS2 💬 VEGF signaling pathway × Name Full Name PTGS2 prostaglandin G/H synthase 2 precursor	Aspirin 💬 VEGF signaling pathway × Name Other Names Aspirin Aspalon Acetylsalicylic acid Easprin Durlaza	Acetylsalicylic acid	[5] 13, 46, 51, 62, 210 💬 327. VEGF signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
328	Viral carcinogenesis 💬	[1] C3 💬 Viral carcinogenesis × Name Full Name C3 complement C3 preproprotein	Pegcetacoplan 💬 Viral carcinogenesis × Name Other Names Pegcetacoplan Empaveli SYFOVRE	Pegcetacoplan	[4]  2 , 61, 62, 223 💬 328. Viral carcinogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
329	Wnt signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Wnt signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Cyclosporine 💬 Wnt signaling pathway × Name Other Names Cyclosporine Ciclosporin Gengraf Neoral Restasis Sandimmune CEQUA RESTASIS MULTIDOSE VERKAZIA VEVYE CYCLOSPORINE, MODFIED	Cyclosporine	[39] 11, 14, 19, 20, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 56, 58, 60, 61, 62, 63, 64, 65, 67, 90, 95, 97, 107, 118, 162, 164, 222, 223, 226, 228, 234, 283, 284, 285, 302 💬 329. Wnt signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 36 Epidermolysis bullosa;Kindler syndrome; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 58 Hypertrophic cardiomyopathy;HCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 95 Autoimmune hepatitis; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 118 Myelomeningocele;Myeloschisis;Myelocele;Myelocystocele;Syringomyelocele;Neural tube defects; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 302 Leber hereditary optic neuropathy;LHON;Leber hereditary optic atrophy;Leber disease;
330	Wnt signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Wnt signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Wnt signaling pathway × Name Other Names Tacrolimus Tacrolimus hydrate Prograf Protopic ASTAGRAF XL ENVARSUS	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 330. Wnt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;
331	Wnt signaling pathway 💬	[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬 Wnt signaling pathway × Name Full Name PPP3CA protein phosphatase 3 catalytic subunit alpha isoform 1 PPP3CB serine/threonine-protein phosphatase 2B catalytic subunit beta isoform isoform b PPP3CC serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform isoform 2 PPP3R1 calcineurin subunit B type 1 PPP3R2 calcineurin subunit B type 2	Tacrolimus 💬 Wnt signaling pathway × Name Other Names Tacrolimus Prograf	Tacrolimus	[37]  2 ,  6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 57, 60, 61, 62, 63, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 223, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬 330. Wnt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 151 Rasmussen encephalitis; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal syndrome;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Refsum syndrome;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;Takahara syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 286 Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia; 299 Cystic fibrosis;CF;

Back to top