Target Gene/Pathway Pathway / Gene

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No.	KEGG PATHWAY On map, Yellow: Drug target, Red: All disease-related	KEGG GENES	KEGG DRUG	DrugBank	Disease ID
1	Acute myeloid leukemia 💬	[1] MPO 💬 Acute myeloid leukemia × Name Full Name MPO myeloperoxidase precursor	Verdiperstat 💬 Acute myeloid leukemia × Name Other Names Verdiperstat Verdiperstat	Verdiperstat	[3]  2 , 17, 127 💬 1. Acute myeloid leukemia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
2	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 💬 2. 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;
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	Adipocytokine signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Adipocytokine signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Adipocytokine signaling pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 4. Adipocytokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
5	Adipocytokine signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Adipocytokine signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Adipocytokine signaling pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 4. Adipocytokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
6	Adrenergic signaling in cardiomyocytes 💬	[6] ADRA1A, ADRA1B, ADRA1D, ADRB1, KCNQ1, SCN5A 💬 Adrenergic signaling in cardiomyocytes × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1 SCN5A sodium channel protein type 5 subunit alpha isoform a	Amiodarone hydrochloride 💬 Adrenergic signaling in cardiomyocytes × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 6. Adrenergic signaling in cardiomyocytes × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
7	Adrenergic signaling in cardiomyocytes 💬	[6] ADRA1A, ADRA1B, ADRA1D, ADRB1, KCNQ1, SCN5A 💬 Adrenergic signaling in cardiomyocytes × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1 SCN5A sodium channel protein type 5 subunit alpha isoform a	Amiodarone 💬 Adrenergic signaling in cardiomyocytes × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 6. Adrenergic signaling in cardiomyocytes × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
8	Alcoholic liver disease 💬	[2] PRKAA1, PRKAA2 💬 Alcoholic liver disease × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Alcoholic liver disease × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 8. Alcoholic liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
9	Alcoholic liver disease 💬	[2] PRKAA1, PRKAA2 💬 Alcoholic liver disease × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Alcoholic liver disease × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 8. Alcoholic liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
10	Alcoholism 💬	[1] DRD2 💬 Alcoholism × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 Alcoholism × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 10. Alcoholism × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
11	Alcoholism 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alcoholism × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Alcoholism × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 11. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
12	Alcoholism 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alcoholism × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Alcoholism × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 11. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
13	Alcoholism 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alcoholism × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Alcoholism × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 13. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
14	Alcoholism 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alcoholism × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Alcoholism × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 13. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
15	Aldosterone synthesis and secretion 💬	[1] KCNJ5 💬 Aldosterone synthesis and secretion × Name Full Name KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone hydrochloride 💬 Aldosterone synthesis and secretion × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 15. Aldosterone synthesis and secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
16	Aldosterone synthesis and secretion 💬	[1] KCNJ5 💬 Aldosterone synthesis and secretion × Name Full Name KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone 💬 Aldosterone synthesis and secretion × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 15. Aldosterone synthesis and secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
17	Alzheimer disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alzheimer disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Alzheimer disease × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 17. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
18	Alzheimer disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alzheimer disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Alzheimer disease × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 17. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
19	Alzheimer disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alzheimer disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Alzheimer disease × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 19. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
20	Alzheimer disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alzheimer disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Alzheimer disease × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 19. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
21	Alzheimer disease 💬	[1] MAPT 💬 Alzheimer disease × Name Full Name MAPT microtubule-associated protein tau isoform 1	Flortaucipir F 18 💬 Alzheimer disease × Name Other Names Flortaucipir F 18 Flortaucipir Tauvid	Flortaucipir	[3]  5 ,  7 , 127 💬 21. Alzheimer disease × Disease ID Name  5  Progressive supranuclear palsy;PSP;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
22	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 💬 22. 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;
23	Amphetamine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amphetamine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Amphetamine addiction × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 23. Amphetamine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
24	Amphetamine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amphetamine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Amphetamine addiction × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 23. Amphetamine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
25	Amphetamine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amphetamine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Amphetamine addiction × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 25. Amphetamine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
26	Amphetamine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amphetamine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Amphetamine addiction × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 25. Amphetamine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
27	AMPK signaling pathway 💬	[1] ADRA1A 💬 AMPK signaling pathway × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1	Amiodarone hydrochloride 💬 AMPK signaling pathway × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 27. AMPK signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
28	AMPK signaling pathway 💬	[1] ADRA1A 💬 AMPK signaling pathway × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1	Amiodarone 💬 AMPK signaling pathway × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 27. AMPK signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
29	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 💬 29. 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;
30	AMPK signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 AMPK signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 AMPK signaling pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 30. AMPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
31	AMPK signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 AMPK signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 AMPK signaling pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 30. AMPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
32	Amyotrophic lateral sclerosis 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amyotrophic lateral sclerosis × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Amyotrophic lateral sclerosis × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 32. Amyotrophic lateral sclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
33	Amyotrophic lateral sclerosis 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amyotrophic lateral sclerosis × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Amyotrophic lateral sclerosis × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 32. Amyotrophic lateral sclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
34	Amyotrophic lateral sclerosis 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amyotrophic lateral sclerosis × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Amyotrophic lateral sclerosis × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 34. Amyotrophic lateral sclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
35	Amyotrophic lateral sclerosis 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amyotrophic lateral sclerosis × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Amyotrophic lateral sclerosis × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 34. Amyotrophic lateral sclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
36	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 💬 36. 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;
37	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 💬 37. 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;
38	Apelin signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Apelin signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Apelin signaling pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 38. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
39	Apelin signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Apelin signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Apelin signaling pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 38. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
40	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 💬 40. 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;
41	Autophagy - animal 💬	[2] PRKAA1, PRKAA2 💬 Autophagy - animal × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Autophagy - animal × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 41. Autophagy - animal × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
42	Autophagy - animal 💬	[2] PRKAA1, PRKAA2 💬 Autophagy - animal × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Autophagy - animal × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 41. Autophagy - animal × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
43	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 💬 43. 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;
44	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 💬 44. 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;
45	Cadherin signaling 💬	[1] SCN5A 💬 Cadherin signaling × Name Full Name SCN5A sodium channel protein type 5 subunit alpha isoform a	Amiodarone hydrochloride 💬 Cadherin signaling × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 45. Cadherin signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
46	Cadherin signaling 💬	[1] SCN5A 💬 Cadherin signaling × Name Full Name SCN5A sodium channel protein type 5 subunit alpha isoform a	Amiodarone 💬 Cadherin signaling × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 45. Cadherin signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
47	Calcium signaling pathway 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Calcium signaling pathway × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Calcium signaling pathway × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 47. Calcium signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
48	Calcium signaling pathway 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Calcium signaling pathway × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Calcium signaling pathway × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 47. Calcium signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
49	Calcium signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Calcium signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Calcium signaling pathway × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 49. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
50	Calcium signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Calcium signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Calcium signaling pathway × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 49. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
51	Calcium signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Calcium signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Calcium signaling pathway × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 51. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
52	Calcium signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Calcium signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Calcium signaling pathway × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 51. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
53	Calcium signaling pathway 💬	[1] OXTR 💬 Calcium signaling pathway × Name Full Name OXTR oxytocin receptor	Oxytocin 💬 Calcium signaling pathway × Name Other Names Oxytocin Pitocin Syntocinon	Oxytocin	[8]  6 , 70, 72, 127, 168, 193, 206, 226 💬 53. Calcium signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 70 Spinal stenosis;Extensive spinal canal stenosis; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Disorders of antidiuretic hormone (ADH) secretion;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 193 Prader-Willi syndrome; 206 Fragile X syndrome; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
54	cAMP signaling pathway 💬	[1] ADRB1 💬 cAMP signaling pathway × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 cAMP signaling pathway × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 54. cAMP signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
55	cAMP signaling pathway 💬	[1] ADRB1 💬 cAMP signaling pathway × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 cAMP signaling pathway × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 54. cAMP signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
56	cAMP signaling pathway 💬	[1] DRD2 💬 cAMP signaling pathway × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 cAMP signaling pathway × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 56. cAMP signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
57	cAMP signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 cAMP signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 cAMP signaling pathway × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 57. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
58	cAMP signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 cAMP signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 cAMP signaling pathway × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 57. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
59	cAMP signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 cAMP signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 cAMP signaling pathway × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 59. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
60	cAMP signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 cAMP signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 cAMP signaling pathway × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 59. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
61	cAMP signaling pathway 💬	[1] HTR1A 💬 cAMP signaling pathway × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A	Vortioxetine 💬 cAMP signaling pathway × Name Other Names Vortioxetine Brintellix	Vortioxetine	[2]  6 , 127 💬 61. cAMP signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
62	cAMP signaling pathway 💬	[1] HTR1A 💬 cAMP signaling pathway × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A	Vortioxetine hydrobromide 💬 cAMP signaling pathway × Name Other Names Vortioxetine hydrobromide Brintellix Trintellix	Vortioxetine	[2]  6 , 127 💬 61. cAMP signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
63	cAMP signaling pathway 💬	[1] HTR1A 💬 cAMP signaling pathway × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A	Vortioxetine hemihydrobromide 💬 cAMP signaling pathway × Name Other Names Vortioxetine hemihydrobromide Vortioxetine hemihydrobromide	Vortioxetine	[2]  6 , 127 💬 61. cAMP signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
64	cAMP signaling pathway 💬	[1] OXTR 💬 cAMP signaling pathway × Name Full Name OXTR oxytocin receptor	Oxytocin 💬 cAMP signaling pathway × Name Other Names Oxytocin Pitocin Syntocinon	Oxytocin	[8]  6 , 70, 72, 127, 168, 193, 206, 226 💬 64. cAMP signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 70 Spinal stenosis;Extensive spinal canal stenosis; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Disorders of antidiuretic hormone (ADH) secretion;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 193 Prader-Willi syndrome; 206 Fragile X syndrome; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
65	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 💬 65. 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;
66	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 💬 66. 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;
67	cGMP-PKG signaling pathway 💬	[5] ADRA1A, ADRA1B, ADRA1D, ADRB1, KCNJ8 💬 cGMP-PKG signaling pathway × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor KCNJ8 ATP-sensitive inward rectifier potassium channel 8	Amiodarone hydrochloride 💬 cGMP-PKG signaling pathway × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 67. cGMP-PKG signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
68	cGMP-PKG signaling pathway 💬	[5] ADRA1A, ADRA1B, ADRA1D, ADRB1, KCNJ8 💬 cGMP-PKG signaling pathway × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor KCNJ8 ATP-sensitive inward rectifier potassium channel 8	Amiodarone 💬 cGMP-PKG signaling pathway × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 67. cGMP-PKG signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
69	Chemical carcinogenesis - receptor activation 💬	[1] ADRB1 💬 Chemical carcinogenesis - receptor activation × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Chemical carcinogenesis - receptor activation × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 69. Chemical carcinogenesis - receptor activation × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
70	Chemical carcinogenesis - receptor activation 💬	[1] ADRB1 💬 Chemical carcinogenesis - receptor activation × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Chemical carcinogenesis - receptor activation × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 69. Chemical carcinogenesis - receptor activation × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
71	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 💬 71. 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;
72	Cholesterol metabolism 💬	[1] SORT1 💬 Cholesterol metabolism × Name Full Name SORT1 sortilin isoform 1 preproprotein	Latozinemab 💬 Cholesterol metabolism × Name Other Names Latozinemab Latozinemab	Latozinemab	[1] 127 💬 72. Cholesterol metabolism × Disease ID Name 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
73	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 💬 73. 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;
74	Cholinergic synapse 💬	[1] ACHE 💬 Cholinergic synapse × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Donepezil hydrochloride 💬 Cholinergic synapse × Name Other Names Donepezil hydrochloride Aricept DONEPEZIL	Donepezil	[8]  5 ,  6 , 13, 46, 124, 127, 156, 206 💬 74. Cholinergic synapse × Disease ID Name  5  Progressive supranuclear palsy;PSP;  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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 124 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;CADASIL;Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy;Autosomal dominant cerebral artery disease; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 156 Rett syndrome; 206 Fragile X syndrome;
75	Cholinergic synapse 💬	[1] ACHE 💬 Cholinergic synapse × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Donepezil 💬 Cholinergic synapse × Name Other Names Donepezil Donaz Allydone	Donepezil	[8]  5 ,  6 , 13, 46, 124, 127, 156, 206 💬 74. Cholinergic synapse × Disease ID Name  5  Progressive supranuclear palsy;PSP;  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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 124 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;CADASIL;Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy;Autosomal dominant cerebral artery disease; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 156 Rett syndrome; 206 Fragile X syndrome;
76	Cholinergic synapse 💬	[1] ACHE 💬 Cholinergic synapse × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Galantamine hydrobromide 💬 Cholinergic synapse × Name Other Names Galantamine hydrobromide Razadyne Reminyl	Galantamine	[3]  6 , 11, 127 💬 76. Cholinergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
77	Cholinergic synapse 💬	[1] ACHE 💬 Cholinergic synapse × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Galantamine 💬 Cholinergic synapse × Name Other Names Galantamine Reminyl	Galantamine	[3]  6 , 11, 127 💬 76. Cholinergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
78	Cholinergic synapse 💬	[3] KCNJ12, KCNJ3, KCNQ1 💬 Cholinergic synapse × Name Full Name KCNJ12 ATP-sensitive inward rectifier potassium channel 12 KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone hydrochloride 💬 Cholinergic synapse × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 78. Cholinergic synapse × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
79	Cholinergic synapse 💬	[3] KCNJ12, KCNJ3, KCNQ1 💬 Cholinergic synapse × Name Full Name KCNJ12 ATP-sensitive inward rectifier potassium channel 12 KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone 💬 Cholinergic synapse × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 78. Cholinergic synapse × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
80	Circadian entrainment 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Circadian entrainment × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Circadian entrainment × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 80. Circadian entrainment × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
81	Circadian entrainment 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Circadian entrainment × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Circadian entrainment × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 80. Circadian entrainment × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
82	Circadian entrainment 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Circadian entrainment × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Circadian entrainment × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 82. Circadian entrainment × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
83	Circadian entrainment 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Circadian entrainment × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Circadian entrainment × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 82. Circadian entrainment × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
84	Circadian entrainment 💬	[2] KCNJ3, KCNJ5 💬 Circadian entrainment × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone hydrochloride 💬 Circadian entrainment × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 84. Circadian entrainment × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
85	Circadian entrainment 💬	[2] KCNJ3, KCNJ5 💬 Circadian entrainment × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone 💬 Circadian entrainment × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 84. Circadian entrainment × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
86	Circadian rhythm 💬	[2] PRKAA1, PRKAA2 💬 Circadian rhythm × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Circadian rhythm × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 86. Circadian rhythm × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
87	Circadian rhythm 💬	[2] PRKAA1, PRKAA2 💬 Circadian rhythm × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Circadian rhythm × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 86. Circadian rhythm × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
88	Cocaine addiction 💬	[1] DRD2 💬 Cocaine addiction × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 Cocaine addiction × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 88. Cocaine addiction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
89	Cocaine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Cocaine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Cocaine addiction × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 89. Cocaine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
90	Cocaine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Cocaine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Cocaine addiction × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 89. Cocaine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
91	Cocaine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Cocaine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Cocaine addiction × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 91. Cocaine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
92	Cocaine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Cocaine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Cocaine addiction × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 91. Cocaine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
93	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 💬 93. 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;
94	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 💬 94. 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;
95	Dilated cardiomyopathy 💬	[1] ADRB1 💬 Dilated cardiomyopathy × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Dilated cardiomyopathy × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 95. Dilated cardiomyopathy × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
96	Dilated cardiomyopathy 💬	[1] ADRB1 💬 Dilated cardiomyopathy × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Dilated cardiomyopathy × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 95. Dilated cardiomyopathy × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
97	Dopaminergic synapse 💬	[1] COMT 💬 Dopaminergic synapse × Name Full Name COMT catechol O-methyltransferase isoform MB-COMT	Tolcapone 💬 Dopaminergic synapse × Name Other Names Tolcapone Tasmar	Tolcapone	[3]  6 , 28, 127 💬 97. Dopaminergic synapse × 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
98	Dopaminergic synapse 💬	[1] DRD2 💬 Dopaminergic synapse × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 Dopaminergic synapse × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 98. Dopaminergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
99	Dopaminergic synapse 💬	[2] GRIN2A, GRIN2B 💬 Dopaminergic synapse × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine hydrochloride 💬 Dopaminergic synapse × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 99. Dopaminergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
100	Dopaminergic synapse 💬	[2] GRIN2A, GRIN2B 💬 Dopaminergic synapse × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine 💬 Dopaminergic synapse × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 99. Dopaminergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
101	Dopaminergic synapse 💬	[2] GRIN2A, GRIN2B 💬 Dopaminergic synapse × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine hydrochloride 💬 Dopaminergic synapse × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 101. Dopaminergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
102	Dopaminergic synapse 💬	[2] GRIN2A, GRIN2B 💬 Dopaminergic synapse × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine 💬 Dopaminergic synapse × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 101. Dopaminergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
103	Dopaminergic synapse 💬	[3] KCNJ3, KCNJ5, SCN1A 💬 Dopaminergic synapse × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4 SCN1A sodium channel protein type 1 subunit alpha isoform 1	Amiodarone hydrochloride 💬 Dopaminergic synapse × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 103. Dopaminergic synapse × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
104	Dopaminergic synapse 💬	[3] KCNJ3, KCNJ5, SCN1A 💬 Dopaminergic synapse × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4 SCN1A sodium channel protein type 1 subunit alpha isoform 1	Amiodarone 💬 Dopaminergic synapse × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 103. Dopaminergic synapse × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
105	Drug metabolism - other enzymes 💬	[1] MPO 💬 Drug metabolism - other enzymes × Name Full Name MPO myeloperoxidase precursor	Verdiperstat 💬 Drug metabolism - other enzymes × Name Other Names Verdiperstat Verdiperstat	Verdiperstat	[3]  2 , 17, 127 💬 105. Drug metabolism - other enzymes × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
106	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 💬 106. 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;
107	Estrogen signaling pathway 💬	[2] KCNJ3, KCNJ5 💬 Estrogen signaling pathway × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone hydrochloride 💬 Estrogen signaling pathway × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 107. Estrogen signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
108	Estrogen signaling pathway 💬	[2] KCNJ3, KCNJ5 💬 Estrogen signaling pathway × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone 💬 Estrogen signaling pathway × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 107. Estrogen signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
109	Fluid shear stress and atherosclerosis 💬	[2] PRKAA1, PRKAA2 💬 Fluid shear stress and atherosclerosis × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Fluid shear stress and atherosclerosis × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 109. Fluid shear stress and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
110	Fluid shear stress and atherosclerosis 💬	[2] PRKAA1, PRKAA2 💬 Fluid shear stress and atherosclerosis × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Fluid shear stress and atherosclerosis × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 109. Fluid shear stress and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
111	FoxO signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 FoxO signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 FoxO signaling pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 111. FoxO signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
112	FoxO signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 FoxO signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 FoxO signaling pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 111. FoxO signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
113	Gap junction 💬	[1] ADRB1 💬 Gap junction × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Gap junction × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 113. Gap junction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
114	Gap junction 💬	[1] ADRB1 💬 Gap junction × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Gap junction × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 113. Gap junction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
115	Gap junction 💬	[1] DRD2 💬 Gap junction × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 Gap junction × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 115. Gap junction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
116	Gastric acid secretion 💬	[1] KCNQ1 💬 Gastric acid secretion × Name Full Name KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone hydrochloride 💬 Gastric acid secretion × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 116. Gastric acid secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
117	Gastric acid secretion 💬	[1] KCNQ1 💬 Gastric acid secretion × Name Full Name KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone 💬 Gastric acid secretion × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 116. Gastric acid secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
118	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 💬 118. 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;
119	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 💬 119. 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;
120	Glucagon signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Glucagon signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Glucagon signaling pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 120. Glucagon signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
121	Glucagon signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Glucagon signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Glucagon signaling pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 120. Glucagon signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
122	Glutamatergic synapse 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Glutamatergic synapse × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Glutamatergic synapse × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 122. Glutamatergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
123	Glutamatergic synapse 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Glutamatergic synapse × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Glutamatergic synapse × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 122. Glutamatergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
124	Glutamatergic synapse 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Glutamatergic synapse × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Glutamatergic synapse × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 124. Glutamatergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
125	Glutamatergic synapse 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Glutamatergic synapse × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Glutamatergic synapse × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 124. Glutamatergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
126	Glutamatergic synapse 💬	[1] KCNJ3 💬 Glutamatergic synapse × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1	Amiodarone hydrochloride 💬 Glutamatergic synapse × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 126. Glutamatergic synapse × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
127	Glutamatergic synapse 💬	[1] KCNJ3 💬 Glutamatergic synapse × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1	Amiodarone 💬 Glutamatergic synapse × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 126. Glutamatergic synapse × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
128	Glycerophospholipid metabolism 💬	[1] ACHE 💬 Glycerophospholipid metabolism × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Donepezil hydrochloride 💬 Glycerophospholipid metabolism × Name Other Names Donepezil hydrochloride Aricept DONEPEZIL	Donepezil	[8]  5 ,  6 , 13, 46, 124, 127, 156, 206 💬 128. Glycerophospholipid metabolism × Disease ID Name  5  Progressive supranuclear palsy;PSP;  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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 124 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;CADASIL;Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy;Autosomal dominant cerebral artery disease; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 156 Rett syndrome; 206 Fragile X syndrome;
129	Glycerophospholipid metabolism 💬	[1] ACHE 💬 Glycerophospholipid metabolism × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Donepezil 💬 Glycerophospholipid metabolism × Name Other Names Donepezil Donaz Allydone	Donepezil	[8]  5 ,  6 , 13, 46, 124, 127, 156, 206 💬 128. Glycerophospholipid metabolism × Disease ID Name  5  Progressive supranuclear palsy;PSP;  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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 124 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;CADASIL;Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy;Autosomal dominant cerebral artery disease; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 156 Rett syndrome; 206 Fragile X syndrome;
130	Glycerophospholipid metabolism 💬	[1] ACHE 💬 Glycerophospholipid metabolism × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Galantamine hydrobromide 💬 Glycerophospholipid metabolism × Name Other Names Galantamine hydrobromide Razadyne Reminyl	Galantamine	[3]  6 , 11, 127 💬 130. Glycerophospholipid metabolism × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
131	Glycerophospholipid metabolism 💬	[1] ACHE 💬 Glycerophospholipid metabolism × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Galantamine 💬 Glycerophospholipid metabolism × Name Other Names Galantamine Reminyl	Galantamine	[3]  6 , 11, 127 💬 130. Glycerophospholipid metabolism × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
132	GnRH secretion 💬	[3] KCNJ11, KCNJ3, KCNJ5 💬 GnRH secretion × Name Full Name KCNJ11 ATP-sensitive inward rectifier potassium channel 11 isoform 1 KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone hydrochloride 💬 GnRH secretion × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 132. GnRH secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
133	GnRH secretion 💬	[3] KCNJ11, KCNJ3, KCNJ5 💬 GnRH secretion × Name Full Name KCNJ11 ATP-sensitive inward rectifier potassium channel 11 isoform 1 KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone 💬 GnRH secretion × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 132. GnRH secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
134	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 💬 134. 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;
135	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 💬 135. 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;
136	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 💬 136. 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;
137	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 💬 137. 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;
138	Hormone signaling 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Hormone signaling × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Hormone signaling × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 138. Hormone signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
139	Hormone signaling 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Hormone signaling × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Hormone signaling × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 138. Hormone signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
140	Hormone signaling 💬	[1] DRD2 💬 Hormone signaling × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 Hormone signaling × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 140. Hormone signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
141	Hormone signaling 💬	[2] HCRTR1, HCRTR2 💬 Hormone signaling × Name Full Name HCRTR1 orexin/Hypocretin receptor type 1 HCRTR2 orexin receptor type 2	Lemborexant 💬 Hormone signaling × Name Other Names Lemborexant Dayvigo	Lemborexant	[2]  6 , 127 💬 141. Hormone signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
142	Hormone signaling 💬	[1] OXTR 💬 Hormone signaling × Name Full Name OXTR oxytocin receptor	Oxytocin 💬 Hormone signaling × Name Other Names Oxytocin Pitocin Syntocinon	Oxytocin	[8]  6 , 70, 72, 127, 168, 193, 206, 226 💬 142. Hormone signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 70 Spinal stenosis;Extensive spinal canal stenosis; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Disorders of antidiuretic hormone (ADH) secretion;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 193 Prader-Willi syndrome; 206 Fragile X syndrome; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
143	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 💬 143. 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;
144	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 💬 144. 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;
145	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 💬 145. 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;
146	Huntington disease 💬	[2] GRIN1, GRIN2B 💬 Huntington disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine hydrochloride 💬 Huntington disease × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 146. Huntington disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
147	Huntington disease 💬	[2] GRIN1, GRIN2B 💬 Huntington disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine 💬 Huntington disease × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 146. Huntington disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
148	Huntington disease 💬	[2] GRIN1, GRIN2B 💬 Huntington disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine hydrochloride 💬 Huntington disease × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 148. Huntington disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
149	Huntington disease 💬	[2] GRIN1, GRIN2B 💬 Huntington disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine 💬 Huntington disease × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 148. Huntington disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
150	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 💬 150. 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;
151	Hypertrophic cardiomyopathy 💬	[2] PRKAA1, PRKAA2 💬 Hypertrophic cardiomyopathy × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Hypertrophic cardiomyopathy × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 151. Hypertrophic cardiomyopathy × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
152	Hypertrophic cardiomyopathy 💬	[2] PRKAA1, PRKAA2 💬 Hypertrophic cardiomyopathy × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Hypertrophic cardiomyopathy × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 151. Hypertrophic cardiomyopathy × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
153	IgSF CAM signaling 💬	[1] SCN8A 💬 IgSF CAM signaling × Name Full Name SCN8A sodium channel protein type 8 subunit alpha isoform 3	Amiodarone hydrochloride 💬 IgSF CAM signaling × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 153. IgSF CAM signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
154	IgSF CAM signaling 💬	[1] SCN8A 💬 IgSF CAM signaling × Name Full Name SCN8A sodium channel protein type 8 subunit alpha isoform 3	Amiodarone 💬 IgSF CAM signaling × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 153. IgSF CAM signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
155	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 💬 155. 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;
156	Insulin resistance 💬	[2] PRKAA1, PRKAA2 💬 Insulin resistance × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Insulin resistance × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 156. Insulin resistance × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
157	Insulin resistance 💬	[2] PRKAA1, PRKAA2 💬 Insulin resistance × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Insulin resistance × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 156. Insulin resistance × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
158	Insulin secretion 💬	[1] KCNJ11 💬 Insulin secretion × Name Full Name KCNJ11 ATP-sensitive inward rectifier potassium channel 11 isoform 1	Amiodarone hydrochloride 💬 Insulin secretion × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 158. Insulin secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
159	Insulin secretion 💬	[1] KCNJ11 💬 Insulin secretion × Name Full Name KCNJ11 ATP-sensitive inward rectifier potassium channel 11 isoform 1	Amiodarone 💬 Insulin secretion × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 158. Insulin secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
160	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 💬 160. 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;
161	Insulin signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Insulin signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Insulin signaling pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 161. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
162	Insulin signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Insulin signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Insulin signaling pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 161. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
163	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 💬 163. 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;
164	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 💬 164. 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;
165	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 💬 165. 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;
166	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 💬 166. 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;
167	Long-term potentiation 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Long-term potentiation × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Long-term potentiation × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 167. Long-term potentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
168	Long-term potentiation 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Long-term potentiation × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Long-term potentiation × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 167. Long-term potentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
169	Long-term potentiation 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Long-term potentiation × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Long-term potentiation × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 169. Long-term potentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
170	Long-term potentiation 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Long-term potentiation × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Long-term potentiation × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 169. Long-term potentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
171	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 💬 171. 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;
172	Longevity regulating pathway 💬	[2] PRKAA1, PRKAA2 💬 Longevity regulating pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Longevity regulating pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 172. Longevity regulating pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
173	Longevity regulating pathway 💬	[2] PRKAA1, PRKAA2 💬 Longevity regulating pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Longevity regulating pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 172. Longevity regulating pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
174	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 💬 174. 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;
175	Longevity regulating pathway - multiple species 💬	[2] PRKAA1, PRKAA2 💬 Longevity regulating pathway - multiple species × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Longevity regulating pathway - multiple species × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 175. Longevity regulating pathway - multiple species × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
176	Longevity regulating pathway - multiple species 💬	[2] PRKAA1, PRKAA2 💬 Longevity regulating pathway - multiple species × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Longevity regulating pathway - multiple species × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 175. Longevity regulating pathway - multiple species × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
177	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 💬 177. 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;
178	Lysosome biogenesis 💬	[1] SORT1 💬 Lysosome biogenesis × Name Full Name SORT1 sortilin isoform 1 preproprotein	Latozinemab 💬 Lysosome biogenesis × Name Other Names Latozinemab Latozinemab	Latozinemab	[1] 127 💬 178. Lysosome biogenesis × Disease ID Name 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
179	MAPK signaling pathway 💬	[1] MAPT 💬 MAPK signaling pathway × Name Full Name MAPT microtubule-associated protein tau isoform 1	Flortaucipir F 18 💬 MAPK signaling pathway × Name Other Names Flortaucipir F 18 Flortaucipir Tauvid	Flortaucipir	[3]  5 ,  7 , 127 💬 179. MAPK signaling pathway × Disease ID Name  5  Progressive supranuclear palsy;PSP;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
180	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 💬 180. 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;
181	Morphine addiction 💬	[2] KCNJ3, KCNJ5 💬 Morphine addiction × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone hydrochloride 💬 Morphine addiction × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 181. Morphine addiction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
182	Morphine addiction 💬	[2] KCNJ3, KCNJ5 💬 Morphine addiction × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone 💬 Morphine addiction × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 181. Morphine addiction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
183	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 💬 183. 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;
184	mTOR signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 mTOR signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 mTOR signaling pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 184. mTOR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
185	mTOR signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 mTOR signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 mTOR signaling pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 184. mTOR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
186	Neuroactive ligand signaling 💬	[1] ACHE 💬 Neuroactive ligand signaling × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Donepezil hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Donepezil hydrochloride Aricept DONEPEZIL	Donepezil	[8]  5 ,  6 , 13, 46, 124, 127, 156, 206 💬 186. Neuroactive ligand signaling × Disease ID Name  5  Progressive supranuclear palsy;PSP;  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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 124 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;CADASIL;Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy;Autosomal dominant cerebral artery disease; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 156 Rett syndrome; 206 Fragile X syndrome;
187	Neuroactive ligand signaling 💬	[1] ACHE 💬 Neuroactive ligand signaling × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Donepezil 💬 Neuroactive ligand signaling × Name Other Names Donepezil Donaz Allydone	Donepezil	[8]  5 ,  6 , 13, 46, 124, 127, 156, 206 💬 186. Neuroactive ligand signaling × Disease ID Name  5  Progressive supranuclear palsy;PSP;  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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 124 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;CADASIL;Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy;Autosomal dominant cerebral artery disease; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 156 Rett syndrome; 206 Fragile X syndrome;
188	Neuroactive ligand signaling 💬	[1] ACHE 💬 Neuroactive ligand signaling × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Galantamine hydrobromide 💬 Neuroactive ligand signaling × Name Other Names Galantamine hydrobromide Razadyne Reminyl	Galantamine	[3]  6 , 11, 127 💬 188. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
189	Neuroactive ligand signaling 💬	[1] ACHE 💬 Neuroactive ligand signaling × Name Full Name ACHE acetylcholinesterase isoform E4-E6 precursor	Galantamine 💬 Neuroactive ligand signaling × Name Other Names Galantamine Reminyl	Galantamine	[3]  6 , 11, 127 💬 188. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
190	Neuroactive ligand signaling 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Neuroactive ligand signaling × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 190. Neuroactive ligand signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
191	Neuroactive ligand signaling 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Neuroactive ligand signaling × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Neuroactive ligand signaling × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 190. Neuroactive ligand signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
192	Neuroactive ligand signaling 💬	[1] DRD2 💬 Neuroactive ligand signaling × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 Neuroactive ligand signaling × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 192. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
193	Neuroactive ligand signaling 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand signaling × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 193. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
194	Neuroactive ligand signaling 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand signaling × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Neuroactive ligand signaling × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 193. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
195	Neuroactive ligand signaling 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand signaling × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 195. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
196	Neuroactive ligand signaling 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand signaling × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Neuroactive ligand signaling × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 195. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
197	Neuroactive ligand signaling 💬	[7] HTR1A, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E, SLC6A4 💬 Neuroactive ligand signaling × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A HTR3A 5-hydroxytryptamine receptor 3A isoform b precursor HTR3B 5-hydroxytryptamine receptor 3B isoform 1 precursor HTR3C 5-hydroxytryptamine receptor 3C precursor HTR3D 5-hydroxytryptamine receptor 3D isoform 3 precursor HTR3E 5-hydroxytryptamine receptor 3E isoform d precursor SLC6A4 sodium-dependent serotonin transporter	Vortioxetine 💬 Neuroactive ligand signaling × Name Other Names Vortioxetine Brintellix	Vortioxetine	[2]  6 , 127 💬 197. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
198	Neuroactive ligand signaling 💬	[7] HTR1A, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E, SLC6A4 💬 Neuroactive ligand signaling × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A HTR3A 5-hydroxytryptamine receptor 3A isoform b precursor HTR3B 5-hydroxytryptamine receptor 3B isoform 1 precursor HTR3C 5-hydroxytryptamine receptor 3C precursor HTR3D 5-hydroxytryptamine receptor 3D isoform 3 precursor HTR3E 5-hydroxytryptamine receptor 3E isoform d precursor SLC6A4 sodium-dependent serotonin transporter	Vortioxetine hydrobromide 💬 Neuroactive ligand signaling × Name Other Names Vortioxetine hydrobromide Brintellix Trintellix	Vortioxetine	[2]  6 , 127 💬 197. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
199	Neuroactive ligand signaling 💬	[7] HTR1A, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E, SLC6A4 💬 Neuroactive ligand signaling × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A HTR3A 5-hydroxytryptamine receptor 3A isoform b precursor HTR3B 5-hydroxytryptamine receptor 3B isoform 1 precursor HTR3C 5-hydroxytryptamine receptor 3C precursor HTR3D 5-hydroxytryptamine receptor 3D isoform 3 precursor HTR3E 5-hydroxytryptamine receptor 3E isoform d precursor SLC6A4 sodium-dependent serotonin transporter	Vortioxetine hemihydrobromide 💬 Neuroactive ligand signaling × Name Other Names Vortioxetine hemihydrobromide Vortioxetine hemihydrobromide	Vortioxetine	[2]  6 , 127 💬 197. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
200	Neuroactive ligand signaling 💬	[1] SLC6A4 💬 Neuroactive ligand signaling × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram hydrobromide 💬 Neuroactive ligand signaling × Name Other Names Citalopram hydrobromide Celexa CITALOPRAM	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 200. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
201	Neuroactive ligand signaling 💬	[1] SLC6A4 💬 Neuroactive ligand signaling × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram 💬 Neuroactive ligand signaling × Name Other Names Citalopram Citadur	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 200. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
202	Neuroactive ligand-receptor interaction 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Neuroactive ligand-receptor interaction × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Neuroactive ligand-receptor interaction × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 202. Neuroactive ligand-receptor interaction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
203	Neuroactive ligand-receptor interaction 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Neuroactive ligand-receptor interaction × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Neuroactive ligand-receptor interaction × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 202. Neuroactive ligand-receptor interaction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
204	Neuroactive ligand-receptor interaction 💬	[2] CNR1, CNR2 💬 Neuroactive ligand-receptor interaction × Name Full Name CNR1 cannabinoid receptor 1 isoform a CNR2 cannabinoid receptor 2	Nabilone 💬 Neuroactive ligand-receptor interaction × Name Other Names Nabilone Cesamet	Nabilone	[4]  6 , 13, 97, 127 💬 204. Neuroactive ligand-receptor interaction × 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; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
205	Neuroactive ligand-receptor interaction 💬	[1] DRD2 💬 Neuroactive ligand-receptor interaction × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 Neuroactive ligand-receptor interaction × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 205. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
206	Neuroactive ligand-receptor interaction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand-receptor interaction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Neuroactive ligand-receptor interaction × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 206. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
207	Neuroactive ligand-receptor interaction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand-receptor interaction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Neuroactive ligand-receptor interaction × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 206. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
208	Neuroactive ligand-receptor interaction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand-receptor interaction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Neuroactive ligand-receptor interaction × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 208. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
209	Neuroactive ligand-receptor interaction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand-receptor interaction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Neuroactive ligand-receptor interaction × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 208. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
210	Neuroactive ligand-receptor interaction 💬	[2] HCRTR1, HCRTR2 💬 Neuroactive ligand-receptor interaction × Name Full Name HCRTR1 orexin/Hypocretin receptor type 1 HCRTR2 orexin receptor type 2	Lemborexant 💬 Neuroactive ligand-receptor interaction × Name Other Names Lemborexant Dayvigo	Lemborexant	[2]  6 , 127 💬 210. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
211	Neuroactive ligand-receptor interaction 💬	[1] HTR1A 💬 Neuroactive ligand-receptor interaction × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A	Vortioxetine 💬 Neuroactive ligand-receptor interaction × Name Other Names Vortioxetine Brintellix	Vortioxetine	[2]  6 , 127 💬 211. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
212	Neuroactive ligand-receptor interaction 💬	[1] HTR1A 💬 Neuroactive ligand-receptor interaction × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A	Vortioxetine hydrobromide 💬 Neuroactive ligand-receptor interaction × Name Other Names Vortioxetine hydrobromide Brintellix Trintellix	Vortioxetine	[2]  6 , 127 💬 211. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
213	Neuroactive ligand-receptor interaction 💬	[1] HTR1A 💬 Neuroactive ligand-receptor interaction × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A	Vortioxetine hemihydrobromide 💬 Neuroactive ligand-receptor interaction × Name Other Names Vortioxetine hemihydrobromide Vortioxetine hemihydrobromide	Vortioxetine	[2]  6 , 127 💬 211. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
214	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 💬 214. 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;
215	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 💬 214. 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;
216	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Prednisone 💬 Neuroactive ligand-receptor interaction × Name Other Names Prednisone Prednisone monohydrate Deltasone Meticorten Rayos	Prednisone	[58]  2 , 11, 13, 14, 18, 19, 26, 28, 35, 40, 41, 42, 43, 44, 45, 46, 48, 49, 50, 51, 53, 60, 61, 63, 64, 65, 66, 79, 81, 84, 85, 86, 90, 93, 95, 96, 97, 113, 127, 145, 162, 164, 205, 222, 223, 224, 228, 251, 269, 283, 284, 285, 288, 299, 300, 303, 307, 331 💬 216. 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; 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; 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; 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; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 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; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 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; 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; 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; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia 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; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 251 Urea cycle disorder;Primary hyperammonemia;Carbamoyl phosphate synthetase I deficiency;CPSI deficiency;Ornithine transcarbamylase deficiency;OTC deficiency;Classic citrullinemia;Citrullinemia type I;Argininosuccinic aciduria;Argininemia;N-acetylglutamate synthase deficiency;NAGS deficiency; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 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; 299 Cystic fibrosis;CF; 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; 303 Usher syndrome; 307 Canavan disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
217	Neuroactive ligand-receptor interaction 💬	[1] OXTR 💬 Neuroactive ligand-receptor interaction × Name Full Name OXTR oxytocin receptor	Oxytocin 💬 Neuroactive ligand-receptor interaction × Name Other Names Oxytocin Pitocin Syntocinon	Oxytocin	[8]  6 , 70, 72, 127, 168, 193, 206, 226 💬 217. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 70 Spinal stenosis;Extensive spinal canal stenosis; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Disorders of antidiuretic hormone (ADH) secretion;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 193 Prader-Willi syndrome; 206 Fragile X syndrome; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
218	Neurotrophin signaling pathway 💬	[1] SORT1 💬 Neurotrophin signaling pathway × Name Full Name SORT1 sortilin isoform 1 preproprotein	Latozinemab 💬 Neurotrophin signaling pathway × Name Other Names Latozinemab Latozinemab	Latozinemab	[1] 127 💬 218. Neurotrophin signaling pathway × Disease ID Name 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
219	Neutrophil extracellular trap formation 💬	[1] MPO 💬 Neutrophil extracellular trap formation × Name Full Name MPO myeloperoxidase precursor	Verdiperstat 💬 Neutrophil extracellular trap formation × Name Other Names Verdiperstat Verdiperstat	Verdiperstat	[3]  2 , 17, 127 💬 219. Neutrophil extracellular trap formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
220	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 💬 220. 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;
221	Nicotine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Nicotine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Nicotine addiction × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 221. Nicotine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
222	Nicotine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Nicotine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Nicotine addiction × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 221. Nicotine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
223	Nicotine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Nicotine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Nicotine addiction × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 223. Nicotine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
224	Nicotine addiction 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Nicotine addiction × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Nicotine addiction × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 223. Nicotine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
225	Non-alcoholic fatty liver disease 💬	[2] PRKAA1, PRKAA2 💬 Non-alcoholic fatty liver disease × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Non-alcoholic fatty liver disease × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 225. Non-alcoholic fatty liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
226	Non-alcoholic fatty liver disease 💬	[2] PRKAA1, PRKAA2 💬 Non-alcoholic fatty liver disease × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Non-alcoholic fatty liver disease × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 225. Non-alcoholic fatty liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
227	Oxytocin signaling pathway 💬	[3] KCNJ12, KCNJ3, KCNJ5 💬 Oxytocin signaling pathway × Name Full Name KCNJ12 ATP-sensitive inward rectifier potassium channel 12 KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone hydrochloride 💬 Oxytocin signaling pathway × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 227. Oxytocin signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
228	Oxytocin signaling pathway 💬	[3] KCNJ12, KCNJ3, KCNJ5 💬 Oxytocin signaling pathway × Name Full Name KCNJ12 ATP-sensitive inward rectifier potassium channel 12 KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone 💬 Oxytocin signaling pathway × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 227. Oxytocin signaling pathway × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
229	Oxytocin signaling pathway 💬	[1] OXTR 💬 Oxytocin signaling pathway × Name Full Name OXTR oxytocin receptor	Oxytocin 💬 Oxytocin signaling pathway × Name Other Names Oxytocin Pitocin Syntocinon	Oxytocin	[8]  6 , 70, 72, 127, 168, 193, 206, 226 💬 229. Oxytocin signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 70 Spinal stenosis;Extensive spinal canal stenosis; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Disorders of antidiuretic hormone (ADH) secretion;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 193 Prader-Willi syndrome; 206 Fragile X syndrome; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
230	Oxytocin signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Oxytocin signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Oxytocin signaling pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 230. Oxytocin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
231	Oxytocin signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 Oxytocin signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Oxytocin signaling pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 230. Oxytocin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
232	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 💬 232. 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;
233	Pancreatic secretion 💬	[1] KCNQ1 💬 Pancreatic secretion × Name Full Name KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone hydrochloride 💬 Pancreatic secretion × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 233. Pancreatic secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
234	Pancreatic secretion 💬	[1] KCNQ1 💬 Pancreatic secretion × Name Full Name KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone 💬 Pancreatic secretion × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 233. Pancreatic secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
235	Parkinson disease 💬	[1] DRD2 💬 Parkinson disease × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 Parkinson disease × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 235. Parkinson disease × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
236	Parkinson disease 💬	[1] MAPT 💬 Parkinson disease × Name Full Name MAPT microtubule-associated protein tau isoform 1	Flortaucipir F 18 💬 Parkinson disease × Name Other Names Flortaucipir F 18 Flortaucipir Tauvid	Flortaucipir	[3]  5 ,  7 , 127 💬 236. Parkinson disease × Disease ID Name  5  Progressive supranuclear palsy;PSP;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
237	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 💬 237. 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;
238	Pathways of neurodegeneration - multiple diseases 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 238. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
239	Pathways of neurodegeneration - multiple diseases 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 238. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
240	Pathways of neurodegeneration - multiple diseases 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 240. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
241	Pathways of neurodegeneration - multiple diseases 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 240. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
242	Pathways of neurodegeneration - multiple diseases 💬	[1] MAPT 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MAPT microtubule-associated protein tau isoform 1	Flortaucipir F 18 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Flortaucipir F 18 Flortaucipir Tauvid	Flortaucipir	[3]  5 ,  7 , 127 💬 242. Pathways of neurodegeneration - multiple diseases × Disease ID Name  5  Progressive supranuclear palsy;PSP;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
243	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 💬 243. 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;
244	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 💬 244. 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;
245	Phagocytosis 💬	[1] MPO 💬 Phagocytosis × Name Full Name MPO myeloperoxidase precursor	Verdiperstat 💬 Phagocytosis × Name Other Names Verdiperstat Verdiperstat	Verdiperstat	[3]  2 , 17, 127 💬 245. Phagocytosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
246	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 💬 246. 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;
247	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 💬 247. 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;
248	PI3K-Akt signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 PI3K-Akt signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 PI3K-Akt signaling pathway × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 248. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
249	PI3K-Akt signaling pathway 💬	[2] PRKAA1, PRKAA2 💬 PI3K-Akt signaling pathway × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 PI3K-Akt signaling pathway × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 248. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
250	Prion disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Prion disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Prion disease × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 250. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
251	Prion disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Prion disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Prion disease × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 250. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
252	Prion disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Prion disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Prion disease × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 252. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
253	Prion disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Prion disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Prion disease × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 252. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
254	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 💬 254. 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;
255	Protein digestion and absorption 💬	[1] KCNQ1 💬 Protein digestion and absorption × Name Full Name KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone hydrochloride 💬 Protein digestion and absorption × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 255. Protein digestion and absorption × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
256	Protein digestion and absorption 💬	[1] KCNQ1 💬 Protein digestion and absorption × Name Full Name KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone 💬 Protein digestion and absorption × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 255. Protein digestion and absorption × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
257	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 💬 257. 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;
258	Rap1 signaling pathway 💬	[1] CNR1 💬 Rap1 signaling pathway × Name Full Name CNR1 cannabinoid receptor 1 isoform a	Nabilone 💬 Rap1 signaling pathway × Name Other Names Nabilone Cesamet	Nabilone	[4]  6 , 13, 97, 127 💬 258. Rap1 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; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
259	Rap1 signaling pathway 💬	[1] DRD2 💬 Rap1 signaling pathway × Name Full Name DRD2 D(2) dopamine receptor isoform long	Rotigotine 💬 Rap1 signaling pathway × Name Other Names Rotigotine Neupro	Rotigotine	[3]  6 , 67, 127 💬 259. Rap1 signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
260	Rap1 signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Rap1 signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine hydrochloride 💬 Rap1 signaling pathway × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 260. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
261	Rap1 signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Rap1 signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine 💬 Rap1 signaling pathway × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 260. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
262	Rap1 signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Rap1 signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine hydrochloride 💬 Rap1 signaling pathway × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 262. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
263	Rap1 signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Rap1 signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine 💬 Rap1 signaling pathway × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 262. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
264	Ras signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Ras signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine hydrochloride 💬 Ras signaling pathway × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 264. Ras signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
265	Ras signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Ras signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine 💬 Ras signaling pathway × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 264. Ras signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
266	Ras signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Ras signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine hydrochloride 💬 Ras signaling pathway × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 266. Ras signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
267	Ras signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Ras signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine 💬 Ras signaling pathway × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 266. Ras signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
268	Regulation of lipolysis in adipocytes 💬	[1] ADRB1 💬 Regulation of lipolysis in adipocytes × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Regulation of lipolysis in adipocytes × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 268. Regulation of lipolysis in adipocytes × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
269	Regulation of lipolysis in adipocytes 💬	[1] ADRB1 💬 Regulation of lipolysis in adipocytes × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Regulation of lipolysis in adipocytes × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 268. Regulation of lipolysis in adipocytes × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
270	Renin secretion 💬	[1] ADRB1 💬 Renin secretion × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Renin secretion × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 270. Renin secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
271	Renin secretion 💬	[1] ADRB1 💬 Renin secretion × Name Full Name ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Renin secretion × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 270. Renin secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
272	Retrograde endocannabinoid signaling 💬	[1] CNR1 💬 Retrograde endocannabinoid signaling × Name Full Name CNR1 cannabinoid receptor 1 isoform a	Nabilone 💬 Retrograde endocannabinoid signaling × Name Other Names Nabilone Cesamet	Nabilone	[4]  6 , 13, 97, 127 💬 272. Retrograde endocannabinoid 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; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
273	Retrograde endocannabinoid signaling 💬	[2] KCNJ3, KCNJ5 💬 Retrograde endocannabinoid signaling × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone hydrochloride 💬 Retrograde endocannabinoid signaling × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 273. Retrograde endocannabinoid signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
274	Retrograde endocannabinoid signaling 💬	[2] KCNJ3, KCNJ5 💬 Retrograde endocannabinoid signaling × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone 💬 Retrograde endocannabinoid signaling × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 273. Retrograde endocannabinoid signaling × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
275	Salivary secretion 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Salivary secretion × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone hydrochloride 💬 Salivary secretion × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 275. Salivary secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
276	Salivary secretion 💬	[4] ADRA1A, ADRA1B, ADRA1D, ADRB1 💬 Salivary secretion × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor ADRB1 beta-1 adrenergic receptor	Amiodarone 💬 Salivary secretion × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 275. Salivary secretion × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
277	Serotonergic synapse 💬	[7] HTR1A, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E, SLC6A4 💬 Serotonergic synapse × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A HTR3A 5-hydroxytryptamine receptor 3A isoform b precursor HTR3B 5-hydroxytryptamine receptor 3B isoform 1 precursor HTR3C 5-hydroxytryptamine receptor 3C precursor HTR3D 5-hydroxytryptamine receptor 3D isoform 3 precursor HTR3E 5-hydroxytryptamine receptor 3E isoform d precursor SLC6A4 sodium-dependent serotonin transporter	Vortioxetine 💬 Serotonergic synapse × Name Other Names Vortioxetine Brintellix	Vortioxetine	[2]  6 , 127 💬 277. Serotonergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
278	Serotonergic synapse 💬	[7] HTR1A, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E, SLC6A4 💬 Serotonergic synapse × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A HTR3A 5-hydroxytryptamine receptor 3A isoform b precursor HTR3B 5-hydroxytryptamine receptor 3B isoform 1 precursor HTR3C 5-hydroxytryptamine receptor 3C precursor HTR3D 5-hydroxytryptamine receptor 3D isoform 3 precursor HTR3E 5-hydroxytryptamine receptor 3E isoform d precursor SLC6A4 sodium-dependent serotonin transporter	Vortioxetine hydrobromide 💬 Serotonergic synapse × Name Other Names Vortioxetine hydrobromide Brintellix Trintellix	Vortioxetine	[2]  6 , 127 💬 277. Serotonergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
279	Serotonergic synapse 💬	[7] HTR1A, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E, SLC6A4 💬 Serotonergic synapse × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A HTR3A 5-hydroxytryptamine receptor 3A isoform b precursor HTR3B 5-hydroxytryptamine receptor 3B isoform 1 precursor HTR3C 5-hydroxytryptamine receptor 3C precursor HTR3D 5-hydroxytryptamine receptor 3D isoform 3 precursor HTR3E 5-hydroxytryptamine receptor 3E isoform d precursor SLC6A4 sodium-dependent serotonin transporter	Vortioxetine hemihydrobromide 💬 Serotonergic synapse × Name Other Names Vortioxetine hemihydrobromide Vortioxetine hemihydrobromide	Vortioxetine	[2]  6 , 127 💬 277. Serotonergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
280	Serotonergic synapse 💬	[2] KCNJ3, KCNJ5 💬 Serotonergic synapse × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone hydrochloride 💬 Serotonergic synapse × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 280. Serotonergic synapse × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
281	Serotonergic synapse 💬	[2] KCNJ3, KCNJ5 💬 Serotonergic synapse × Name Full Name KCNJ3 G protein-activated inward rectifier potassium channel 1 isoform 1 KCNJ5 G protein-activated inward rectifier potassium channel 4	Amiodarone 💬 Serotonergic synapse × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 280. Serotonergic synapse × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
282	Serotonergic synapse 💬	[1] SLC6A4 💬 Serotonergic synapse × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram hydrobromide 💬 Serotonergic synapse × Name Other Names Citalopram hydrobromide Celexa CITALOPRAM	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 282. Serotonergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
283	Serotonergic synapse 💬	[1] SLC6A4 💬 Serotonergic synapse × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram 💬 Serotonergic synapse × Name Other Names Citalopram Citadur	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 282. Serotonergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
284	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 💬 284. 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;
285	Spinocerebellar ataxia 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Spinocerebellar ataxia × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine hydrochloride 💬 Spinocerebellar ataxia × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 285. Spinocerebellar ataxia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
286	Spinocerebellar ataxia 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Spinocerebellar ataxia × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Amantadine 💬 Spinocerebellar ataxia × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 285. Spinocerebellar ataxia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
287	Spinocerebellar ataxia 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Spinocerebellar ataxia × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine hydrochloride 💬 Spinocerebellar ataxia × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 287. Spinocerebellar ataxia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
288	Spinocerebellar ataxia 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Spinocerebellar ataxia × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Memantine 💬 Spinocerebellar ataxia × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 287. Spinocerebellar ataxia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
289	Spinocerebellar ataxia 💬	[1] KCND3 💬 Spinocerebellar ataxia × Name Full Name KCND3 A-type voltage-gated potassium channel KCND3 isoform 1	Amiodarone hydrochloride 💬 Spinocerebellar ataxia × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 289. Spinocerebellar ataxia × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
290	Spinocerebellar ataxia 💬	[1] KCND3 💬 Spinocerebellar ataxia × Name Full Name KCND3 A-type voltage-gated potassium channel KCND3 isoform 1	Amiodarone 💬 Spinocerebellar ataxia × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 289. Spinocerebellar ataxia × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
291	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 💬 291. 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;
292	Steroid hormone biosynthesis 💬	[1] COMT 💬 Steroid hormone biosynthesis × Name Full Name COMT catechol O-methyltransferase isoform MB-COMT	Tolcapone 💬 Steroid hormone biosynthesis × Name Other Names Tolcapone Tasmar	Tolcapone	[3]  6 , 28, 127 💬 292. Steroid hormone biosynthesis × 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
293	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram hydrobromide 💬 Synaptic vesicle cycle × Name Other Names Citalopram hydrobromide Celexa CITALOPRAM	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 293. Synaptic vesicle cycle × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
294	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram 💬 Synaptic vesicle cycle × Name Other Names Citalopram Citadur	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 293. Synaptic vesicle cycle × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
295	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Vortioxetine 💬 Synaptic vesicle cycle × Name Other Names Vortioxetine Brintellix	Vortioxetine	[2]  6 , 127 💬 295. Synaptic vesicle cycle × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
296	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Vortioxetine hydrobromide 💬 Synaptic vesicle cycle × Name Other Names Vortioxetine hydrobromide Brintellix Trintellix	Vortioxetine	[2]  6 , 127 💬 295. Synaptic vesicle cycle × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
297	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Vortioxetine hemihydrobromide 💬 Synaptic vesicle cycle × Name Other Names Vortioxetine hemihydrobromide Vortioxetine hemihydrobromide	Vortioxetine	[2]  6 , 127 💬 295. Synaptic vesicle cycle × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
298	Systemic lupus erythematosus 💬	[2] GRIN2A, GRIN2B 💬 Systemic lupus erythematosus × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine hydrochloride 💬 Systemic lupus erythematosus × Name Other Names Amantadine hydrochloride Symmetrel Gocovri Osmolex er AMANTADINE AMANTADINE HCL	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 298. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
299	Systemic lupus erythematosus 💬	[2] GRIN2A, GRIN2B 💬 Systemic lupus erythematosus × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Amantadine 💬 Systemic lupus erythematosus × Name Other Names Amantadine Amantadine	Amantadine	[5]  2 ,  6 ,  8 , 13, 127 💬 298. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
300	Systemic lupus erythematosus 💬	[2] GRIN2A, GRIN2B 💬 Systemic lupus erythematosus × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine hydrochloride 💬 Systemic lupus erythematosus × Name Other Names Memantine hydrochloride Namenda Memary MEMANTINE MEMANTINE HCL	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 300. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
301	Systemic lupus erythematosus 💬	[2] GRIN2A, GRIN2B 💬 Systemic lupus erythematosus × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Memantine 💬 Systemic lupus erythematosus × Name Other Names Memantine Exiba	Memantine	[8]  2 ,  6 ,  8 , 13, 49, 127, 205, 206 💬 300. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 49 Systemic lupus erythematosus;SLE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 206 Fragile X syndrome;
302	Taste transduction 💬	[6] HTR1A, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E 💬 Taste transduction × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A HTR3A 5-hydroxytryptamine receptor 3A isoform b precursor HTR3B 5-hydroxytryptamine receptor 3B isoform 1 precursor HTR3C 5-hydroxytryptamine receptor 3C precursor HTR3D 5-hydroxytryptamine receptor 3D isoform 3 precursor HTR3E 5-hydroxytryptamine receptor 3E isoform d precursor	Vortioxetine 💬 Taste transduction × Name Other Names Vortioxetine Brintellix	Vortioxetine	[2]  6 , 127 💬 302. Taste transduction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
303	Taste transduction 💬	[6] HTR1A, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E 💬 Taste transduction × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A HTR3A 5-hydroxytryptamine receptor 3A isoform b precursor HTR3B 5-hydroxytryptamine receptor 3B isoform 1 precursor HTR3C 5-hydroxytryptamine receptor 3C precursor HTR3D 5-hydroxytryptamine receptor 3D isoform 3 precursor HTR3E 5-hydroxytryptamine receptor 3E isoform d precursor	Vortioxetine hydrobromide 💬 Taste transduction × Name Other Names Vortioxetine hydrobromide Brintellix Trintellix	Vortioxetine	[2]  6 , 127 💬 302. Taste transduction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
304	Taste transduction 💬	[6] HTR1A, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E 💬 Taste transduction × Name Full Name HTR1A 5-hydroxytryptamine receptor 1A HTR3A 5-hydroxytryptamine receptor 3A isoform b precursor HTR3B 5-hydroxytryptamine receptor 3B isoform 1 precursor HTR3C 5-hydroxytryptamine receptor 3C precursor HTR3D 5-hydroxytryptamine receptor 3D isoform 3 precursor HTR3E 5-hydroxytryptamine receptor 3E isoform d precursor	Vortioxetine hemihydrobromide 💬 Taste transduction × Name Other Names Vortioxetine hemihydrobromide Vortioxetine hemihydrobromide	Vortioxetine	[2]  6 , 127 💬 302. Taste transduction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
305	Taste transduction 💬	[3] SCN2A, SCN3A, SCN9A 💬 Taste transduction × Name Full Name SCN2A sodium channel protein type 2 subunit alpha isoform 1 SCN3A sodium channel protein type 3 subunit alpha isoform 2 SCN9A sodium channel protein type 9 subunit alpha isoform 2	Amiodarone hydrochloride 💬 Taste transduction × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 305. Taste transduction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
306	Taste transduction 💬	[3] SCN2A, SCN3A, SCN9A 💬 Taste transduction × Name Full Name SCN2A sodium channel protein type 2 subunit alpha isoform 1 SCN3A sodium channel protein type 3 subunit alpha isoform 2 SCN9A sodium channel protein type 9 subunit alpha isoform 2	Amiodarone 💬 Taste transduction × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 305. Taste transduction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
307	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 💬 307. 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;
308	Thermogenesis 💬	[1] CNR1 💬 Thermogenesis × Name Full Name CNR1 cannabinoid receptor 1 isoform a	Nabilone 💬 Thermogenesis × Name Other Names Nabilone Cesamet	Nabilone	[4]  6 , 13, 97, 127 💬 308. 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; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
309	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 💬 309. 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;
310	Thermogenesis 💬	[2] PRKAA1, PRKAA2 💬 Thermogenesis × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Thermogenesis × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 310. Thermogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
311	Thermogenesis 💬	[2] PRKAA1, PRKAA2 💬 Thermogenesis × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Thermogenesis × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 310. Thermogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
312	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 💬 312. 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;
313	Tight junction 💬	[2] PRKAA1, PRKAA2 💬 Tight junction × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin hydrochloride 💬 Tight junction × Name Other Names Metformin hydrochloride Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 313. Tight junction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
314	Tight junction 💬	[2] PRKAA1, PRKAA2 💬 Tight junction × Name Full Name PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1 PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2	Metformin 💬 Tight junction × Name Other Names Metformin Metformin	Metformin	[31]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬 313. Tight junction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 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; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome;Glomerulonephritis; 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; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 233 Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
315	Transcriptional misregulation in cancer 💬	[1] MPO 💬 Transcriptional misregulation in cancer × Name Full Name MPO myeloperoxidase precursor	Verdiperstat 💬 Transcriptional misregulation in cancer × Name Other Names Verdiperstat Verdiperstat	Verdiperstat	[3]  2 , 17, 127 💬 315. Transcriptional misregulation in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
316	Type II diabetes mellitus 💬	[1] KCNJ11 💬 Type II diabetes mellitus × Name Full Name KCNJ11 ATP-sensitive inward rectifier potassium channel 11 isoform 1	Amiodarone hydrochloride 💬 Type II diabetes mellitus × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 316. Type II diabetes mellitus × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
317	Type II diabetes mellitus 💬	[1] KCNJ11 💬 Type II diabetes mellitus × Name Full Name KCNJ11 ATP-sensitive inward rectifier potassium channel 11 isoform 1	Amiodarone 💬 Type II diabetes mellitus × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 316. Type II diabetes mellitus × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
318	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 💬 318. 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;
319	Tyrosine metabolism 💬	[1] COMT 💬 Tyrosine metabolism × Name Full Name COMT catechol O-methyltransferase isoform MB-COMT	Tolcapone 💬 Tyrosine metabolism × Name Other Names Tolcapone Tasmar	Tolcapone	[3]  6 , 28, 127 💬 319. Tyrosine metabolism × 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
320	Vascular smooth muscle contraction 💬	[3] ADRA1A, ADRA1B, ADRA1D 💬 Vascular smooth muscle contraction × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor	Amiodarone hydrochloride 💬 Vascular smooth muscle contraction × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 320. Vascular smooth muscle contraction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
321	Vascular smooth muscle contraction 💬	[3] ADRA1A, ADRA1B, ADRA1D 💬 Vascular smooth muscle contraction × Name Full Name ADRA1A alpha-1A adrenergic receptor isoform 1 ADRA1B alpha-1B adrenergic receptor ADRA1D alpha-1D adrenergic receptor	Amiodarone 💬 Vascular smooth muscle contraction × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 320. Vascular smooth muscle contraction × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
322	Vibrio cholerae infection 💬	[1] KCNQ1 💬 Vibrio cholerae infection × Name Full Name KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone hydrochloride 💬 Vibrio cholerae infection × Name Other Names Amiodarone hydrochloride Ancaron Cordarone Nexterone AMIODARONE HCI PACERONE	Amiodarone	[3] 28, 67, 127 💬 322. Vibrio cholerae infection × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
323	Vibrio cholerae infection 💬	[1] KCNQ1 💬 Vibrio cholerae infection × Name Full Name KCNQ1 potassium voltage-gated channel subfamily KQT member 1 isoform 1	Amiodarone 💬 Vibrio cholerae infection × Name Other Names Amiodarone Amiodarone	Amiodarone	[3] 28, 67, 127 💬 322. Vibrio cholerae infection × Disease ID Name 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; 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; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;

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