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 💬	[2] MAP2K1, MAP2K2 💬 Acute myeloid leukemia × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Acute myeloid leukemia × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 1. Acute myeloid leukemia × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
2	Acute myeloid leukemia 💬	[2] MAP2K1, MAP2K2 💬 Acute myeloid leukemia × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Acute myeloid leukemia × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 2. Acute myeloid leukemia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
3	Acute myeloid leukemia 💬	[2] MAP2K1, MAP2K2 💬 Acute myeloid leukemia × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Acute myeloid leukemia × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 2. Acute myeloid leukemia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
4	Acute myeloid leukemia 💬	[1] MTOR 💬 Acute myeloid leukemia × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Acute myeloid leukemia × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 4. Acute myeloid leukemia × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
5	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 💬 5. 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;
6	Acute myeloid leukemia 💬	[1] PIK3CA 💬 Acute myeloid leukemia × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Acute myeloid leukemia × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 6. Acute myeloid leukemia × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
7	Adipocytokine signaling pathway 💬	[1] MTOR 💬 Adipocytokine signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Adipocytokine signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 7. Adipocytokine signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
8	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 💬 8. 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;
9	Adipocytokine signaling pathway 💬	[1] TNF 💬 Adipocytokine signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Adipocytokine signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 9. Adipocytokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
10	African trypanosomiasis 💬	[1] TNF 💬 African trypanosomiasis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 African trypanosomiasis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 10. African trypanosomiasis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
11	AGE-RAGE signaling pathway in diabetic complications 💬	[1] PIK3CA 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 11. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
12	AGE-RAGE signaling pathway in diabetic complications 💬	[1] TNF 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 12. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
13	AGE-RAGE signaling pathway in diabetic complications 💬	[1] VEGFA 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 13. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
14	Alcoholic liver disease 💬	[1] TNF 💬 Alcoholic liver disease × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Alcoholic liver disease × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 14. Alcoholic liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
15	Alcoholism 💬	[1] MAP2K1 💬 Alcoholism × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Alcoholism × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 15. Alcoholism × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
16	Alcoholism 💬	[1] MAP2K1 💬 Alcoholism × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Alcoholism × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 16. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
17	Alcoholism 💬	[1] MAP2K1 💬 Alcoholism × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Alcoholism × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 16. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
18	Aldosterone-regulated sodium reabsorption 💬	[1] PIK3CA 💬 Aldosterone-regulated sodium reabsorption × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Aldosterone-regulated sodium reabsorption × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 18. Aldosterone-regulated sodium reabsorption × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
19	Allograft rejection 💬	[1] TNF 💬 Allograft rejection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Allograft rejection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 19. Allograft rejection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
20	Alzheimer disease 💬	[2] MAP2K1, MAP2K2 💬 Alzheimer disease × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Alzheimer disease × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 20. Alzheimer disease × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
21	Alzheimer disease 💬	[2] MAP2K1, MAP2K2 💬 Alzheimer disease × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Alzheimer disease × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 21. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
22	Alzheimer disease 💬	[2] MAP2K1, MAP2K2 💬 Alzheimer disease × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Alzheimer disease × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 21. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
23	Alzheimer disease 💬	[1] MTOR 💬 Alzheimer disease × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Alzheimer disease × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 23. Alzheimer disease × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
24	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 💬 24. 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;
25	Alzheimer disease 💬	[1] PIK3CA 💬 Alzheimer disease × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Alzheimer disease × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 25. Alzheimer disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
26	Alzheimer disease 💬	[1] TNF 💬 Alzheimer disease × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Alzheimer disease × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 26. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
27	Amoebiasis 💬	[1] PIK3CA 💬 Amoebiasis × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Amoebiasis × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 27. Amoebiasis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
28	Amoebiasis 💬	[1] TNF 💬 Amoebiasis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Amoebiasis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 28. Amoebiasis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
29	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Lovastatin 💬 AMPK signaling pathway × Name Other Names Lovastatin Mevacor	Lovastatin	[11]  6 , 34, 46, 79, 156, 160, 195, 206, 263, 280, 310 💬 29. AMPK signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 156 Rett syndrome; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Austin syndrome;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 195 Noonan syndrome; 206 Fragile X syndrome; 263 Cerebrotendinous xanthomatosis;CTX;27-hydroxylase deficiency;CYP27 deficiency; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 310 Congenital anomalies syndrome;Partial trisomy 1q syndrome;Chromosome 1q21.1 duplication syndrome;Trisomy 1q;9q34 deletion syndrome;Chromosome 9q34.3 deletion syndrome;Chromosome 9q deletion syndrome;9q subtelomeric deletion syndrome;9q- syndrome;9q34.3 deletion/microdeletion syndrome;Kleefstra syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;
30	AMPK signaling pathway 💬	[1] MTOR 💬 AMPK signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 AMPK signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 30. AMPK signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
31	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 💬 31. 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;
32	AMPK signaling pathway 💬	[1] PIK3CA 💬 AMPK signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 AMPK signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 32. AMPK signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
33	Amyotrophic lateral sclerosis 💬	[1] MTOR 💬 Amyotrophic lateral sclerosis × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Amyotrophic lateral sclerosis × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 33. Amyotrophic lateral sclerosis × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
34	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 💬 34. 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;
35	Amyotrophic lateral sclerosis 💬	[1] TNF 💬 Amyotrophic lateral sclerosis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Amyotrophic lateral sclerosis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 35. Amyotrophic lateral sclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
36	Antigen processing and presentation 💬	[1] TNF 💬 Antigen processing and presentation × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Antigen processing and presentation × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 36. Antigen processing and presentation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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 💬	[2] MAP2K1, MAP2K2 💬 Apelin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Apelin signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 37. Apelin signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
38	Apelin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Apelin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Apelin signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 38. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
39	Apelin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Apelin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Apelin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 38. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
40	Apelin signaling pathway 💬	[1] MTOR 💬 Apelin signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Apelin signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 40. Apelin signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
41	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 💬 41. 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;
42	Apoptosis 💬	[2] MAP2K1, MAP2K2 💬 Apoptosis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Apoptosis × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 42. Apoptosis × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
43	Apoptosis 💬	[2] MAP2K1, MAP2K2 💬 Apoptosis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Apoptosis × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 43. Apoptosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
44	Apoptosis 💬	[2] MAP2K1, MAP2K2 💬 Apoptosis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Apoptosis × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 43. Apoptosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
45	Apoptosis 💬	[1] PIK3CA 💬 Apoptosis × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Apoptosis × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 45. Apoptosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
46	Apoptosis 💬	[1] TNF 💬 Apoptosis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Apoptosis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 46. Apoptosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
47	Asthma 💬	[1] TNF 💬 Asthma × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Asthma × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 47. Asthma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
48	Autophagy - animal 💬	[2] MAP2K1, MAP2K2 💬 Autophagy - animal × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Autophagy - animal × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 48. Autophagy - animal × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
49	Autophagy - animal 💬	[2] MAP2K1, MAP2K2 💬 Autophagy - animal × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Autophagy - animal × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 49. Autophagy - animal × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
50	Autophagy - animal 💬	[2] MAP2K1, MAP2K2 💬 Autophagy - animal × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Autophagy - animal × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 49. Autophagy - animal × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
51	Autophagy - animal 💬	[1] MTOR 💬 Autophagy - animal × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Autophagy - animal × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 51. Autophagy - animal × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
52	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 💬 52. 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;
53	Autophagy - animal 💬	[1] PIK3CA 💬 Autophagy - animal × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Autophagy - animal × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 53. Autophagy - animal × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
54	Autophagy - other 💬	[1] MTOR 💬 Autophagy - other × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Autophagy - other × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 54. Autophagy - other × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
55	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 💬 55. 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;
56	Axon guidance 💬	[1] PIK3CA 💬 Axon guidance × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Axon guidance × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 56. Axon guidance × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
57	B cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 B cell receptor signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 B cell receptor signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 57. B cell receptor signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
58	B cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 B cell receptor signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 B cell receptor signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 58. B cell receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
59	B cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 B cell receptor signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 B cell receptor signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 58. B cell receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
60	B cell receptor signaling pathway 💬	[1] PIK3CA 💬 B cell receptor signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 B cell receptor signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 60. B cell receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
61	Bacterial invasion of epithelial cells 💬	[1] PIK3CA 💬 Bacterial invasion of epithelial cells × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Bacterial invasion of epithelial cells × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 61. Bacterial invasion of epithelial cells × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
62	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Lovastatin 💬 Bile secretion × Name Other Names Lovastatin Mevacor	Lovastatin	[11]  6 , 34, 46, 79, 156, 160, 195, 206, 263, 280, 310 💬 62. Bile secretion × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 156 Rett syndrome; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Austin syndrome;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 195 Noonan syndrome; 206 Fragile X syndrome; 263 Cerebrotendinous xanthomatosis;CTX;27-hydroxylase deficiency;CYP27 deficiency; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 310 Congenital anomalies syndrome;Partial trisomy 1q syndrome;Chromosome 1q21.1 duplication syndrome;Trisomy 1q;9q34 deletion syndrome;Chromosome 9q34.3 deletion syndrome;Chromosome 9q deletion syndrome;9q subtelomeric deletion syndrome;9q- syndrome;9q34.3 deletion/microdeletion syndrome;Kleefstra syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;
63	Bladder cancer 💬	[2] MAP2K1, MAP2K2 💬 Bladder cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Bladder cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 63. Bladder cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
64	Bladder cancer 💬	[2] MAP2K1, MAP2K2 💬 Bladder cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Bladder cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 64. Bladder cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
65	Bladder cancer 💬	[2] MAP2K1, MAP2K2 💬 Bladder cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Bladder cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 64. Bladder cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
66	Bladder cancer 💬	[1] VEGFA 💬 Bladder cancer × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Bladder cancer × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 66. Bladder cancer × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
67	Breast cancer 💬	[2] MAP2K1, MAP2K2 💬 Breast cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Breast cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 67. Breast cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
68	Breast cancer 💬	[2] MAP2K1, MAP2K2 💬 Breast cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Breast cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 68. Breast cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
69	Breast cancer 💬	[2] MAP2K1, MAP2K2 💬 Breast cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Breast cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 68. Breast cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
70	Breast cancer 💬	[1] MTOR 💬 Breast cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Breast cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 70. Breast cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
71	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 💬 71. 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;
72	Breast cancer 💬	[1] PIK3CA 💬 Breast cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Breast cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 72. Breast cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
73	C-type lectin receptor signaling pathway 💬	[1] PIK3CA 💬 C-type lectin receptor signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 C-type lectin receptor signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 73. C-type lectin receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
74	C-type lectin receptor signaling pathway 💬	[1] TNF 💬 C-type lectin receptor signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 C-type lectin receptor signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 74. C-type lectin receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
75	Cadherin signaling 💬	[2] MAP2K1, MAP2K2 💬 Cadherin signaling × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Cadherin signaling × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 75. Cadherin signaling × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
76	Cadherin signaling 💬	[2] MAP2K1, MAP2K2 💬 Cadherin signaling × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Cadherin signaling × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 76. Cadherin signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
77	Cadherin signaling 💬	[2] MAP2K1, MAP2K2 💬 Cadherin signaling × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Cadherin signaling × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 76. Cadherin signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
78	Calcium signaling pathway 💬	[1] VEGFA 💬 Calcium signaling pathway × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Calcium signaling pathway × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 78. Calcium signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
79	cAMP signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cAMP signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 cAMP signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 79. cAMP signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
80	cAMP signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cAMP signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 cAMP signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 80. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
81	cAMP signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cAMP signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 cAMP signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 80. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
82	cAMP signaling pathway 💬	[1] PIK3CA 💬 cAMP signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 cAMP signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 82. cAMP signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
83	Carbohydrate digestion and absorption 💬	[1] PIK3CA 💬 Carbohydrate digestion and absorption × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Carbohydrate digestion and absorption × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 83. Carbohydrate digestion and absorption × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
84	Cellular senescence 💬	[2] MAP2K1, MAP2K2 💬 Cellular senescence × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Cellular senescence × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 84. Cellular senescence × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
85	Cellular senescence 💬	[2] MAP2K1, MAP2K2 💬 Cellular senescence × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Cellular senescence × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 85. Cellular senescence × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
86	Cellular senescence 💬	[2] MAP2K1, MAP2K2 💬 Cellular senescence × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Cellular senescence × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 85. Cellular senescence × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
87	Cellular senescence 💬	[1] MTOR 💬 Cellular senescence × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Cellular senescence × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 87. Cellular senescence × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
88	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 💬 88. 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;
89	Cellular senescence 💬	[1] PIK3CA 💬 Cellular senescence × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Cellular senescence × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 89. Cellular senescence × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
90	Central carbon metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Central carbon metabolism in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Central carbon metabolism in cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 90. Central carbon metabolism in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
91	Central carbon metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Central carbon metabolism in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Central carbon metabolism in cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 91. Central carbon metabolism in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
92	Central carbon metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Central carbon metabolism in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Central carbon metabolism in cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 91. Central carbon metabolism in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
93	Central carbon metabolism in cancer 💬	[1] MTOR 💬 Central carbon metabolism in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Central carbon metabolism in cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 93. Central carbon metabolism in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
94	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 💬 94. 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;
95	Central carbon metabolism in cancer 💬	[1] PIK3CA 💬 Central carbon metabolism in cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Central carbon metabolism in cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 95. Central carbon metabolism in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
96	cGMP-PKG signaling pathway 💬	[3] ADRA2A, ADRA2B, ADRA2C 💬 cGMP-PKG signaling pathway × Name Full Name ADRA2A alpha-2A adrenergic receptor ADRA2B alpha-2B adrenergic receptor ADRA2C alpha-2C adrenergic receptor	Dexmedetomidine 💬 cGMP-PKG signaling pathway × Name Other Names Dexmedetomidine Dexdor Precedex	Dexmedetomidine	[15]  2 ,  4 ,  6 , 21, 22, 34, 46, 70, 107, 113, 171, 212, 215, 226, 280 💬 96. cGMP-PKG signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 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; 171 Wilson disease;WD; 212 Tricuspid atresia;TA; 215 Tetralogy of Fallot;Fallot tetralogy; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
97	cGMP-PKG signaling pathway 💬	[3] ADRA2A, ADRA2B, ADRA2C 💬 cGMP-PKG signaling pathway × Name Full Name ADRA2A alpha-2A adrenergic receptor ADRA2B alpha-2B adrenergic receptor ADRA2C alpha-2C adrenergic receptor	Dexmedetomidine hydrochloride 💬 cGMP-PKG signaling pathway × Name Other Names Dexmedetomidine hydrochloride Igalmi Precedex DEXMEDETOMIDINE DEXMEDETOMIDINE HCL DEXMEDETOMIDINE HYDROCHLORIDE IN 0.9% SODIUM CHLORIDE DEXMEDETOMIDINE HYDROCHLORIDE IN SODIUM CHLORIDE	Dexmedetomidine	[15]  2 ,  4 ,  6 , 21, 22, 34, 46, 70, 107, 113, 171, 212, 215, 226, 280 💬 96. cGMP-PKG signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 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; 171 Wilson disease;WD; 212 Tricuspid atresia;TA; 215 Tetralogy of Fallot;Fallot tetralogy; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
98	cGMP-PKG signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cGMP-PKG signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 cGMP-PKG signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 98. cGMP-PKG signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
99	cGMP-PKG signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cGMP-PKG signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 cGMP-PKG signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 99. cGMP-PKG signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
100	cGMP-PKG signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cGMP-PKG signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 cGMP-PKG signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 99. cGMP-PKG signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
101	Chagas disease 💬	[1] PIK3CA 💬 Chagas disease × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Chagas disease × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 101. Chagas disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
102	Chagas disease 💬	[1] TNF 💬 Chagas disease × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Chagas disease × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 102. Chagas disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
103	Chemical carcinogenesis - reactive oxygen species 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 103. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
104	Chemical carcinogenesis - reactive oxygen species 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 104. Chemical carcinogenesis - reactive oxygen species × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
105	Chemical carcinogenesis - reactive oxygen species 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 104. Chemical carcinogenesis - reactive oxygen species × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
106	Chemical carcinogenesis - reactive oxygen species 💬	[1] PIK3CA 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 106. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
107	Chemical carcinogenesis - reactive oxygen species 💬	[1] VEGFA 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 107. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
108	Chemical carcinogenesis - receptor activation 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - receptor activation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 108. Chemical carcinogenesis - receptor activation × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
109	Chemical carcinogenesis - receptor activation 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - receptor activation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 109. Chemical carcinogenesis - receptor activation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
110	Chemical carcinogenesis - receptor activation 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - receptor activation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Chemical carcinogenesis - receptor activation × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 109. Chemical carcinogenesis - receptor activation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
111	Chemical carcinogenesis - receptor activation 💬	[1] MTOR 💬 Chemical carcinogenesis - receptor activation × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Chemical carcinogenesis - receptor activation × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 111. Chemical carcinogenesis - receptor activation × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
112	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 💬 112. 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;
113	Chemical carcinogenesis - receptor activation 💬	[1] PIK3CA 💬 Chemical carcinogenesis - receptor activation × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 113. Chemical carcinogenesis - receptor activation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
114	Chemical carcinogenesis - receptor activation 💬	[1] VEGFA 💬 Chemical carcinogenesis - receptor activation × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Chemical carcinogenesis - receptor activation × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 114. Chemical carcinogenesis - receptor activation × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
115	Chemokine signaling pathway 💬	[1] MAP2K1 💬 Chemokine signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Chemokine signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 115. Chemokine signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
116	Chemokine signaling pathway 💬	[1] MAP2K1 💬 Chemokine signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Chemokine signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 116. Chemokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
117	Chemokine signaling pathway 💬	[1] MAP2K1 💬 Chemokine signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Chemokine signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 116. Chemokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
118	Chemokine signaling pathway 💬	[1] PIK3CA 💬 Chemokine signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Chemokine signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 118. Chemokine signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
119	Choline metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Choline metabolism in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Choline metabolism in cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 119. Choline metabolism in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
120	Choline metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Choline metabolism in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Choline metabolism in cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 120. Choline metabolism in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
121	Choline metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Choline metabolism in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Choline metabolism in cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 120. Choline metabolism in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
122	Choline metabolism in cancer 💬	[1] MTOR 💬 Choline metabolism in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Choline metabolism in cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 122. Choline metabolism in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
123	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 💬 123. 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;
124	Choline metabolism in cancer 💬	[1] PIK3CA 💬 Choline metabolism in cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Choline metabolism in cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 124. Choline metabolism in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
125	Cholinergic synapse 💬	[1] MAP2K1 💬 Cholinergic synapse × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Cholinergic synapse × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 125. Cholinergic synapse × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
126	Cholinergic synapse 💬	[1] MAP2K1 💬 Cholinergic synapse × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Cholinergic synapse × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 126. Cholinergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
127	Cholinergic synapse 💬	[1] MAP2K1 💬 Cholinergic synapse × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Cholinergic synapse × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 126. Cholinergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
128	Cholinergic synapse 💬	[1] PIK3CA 💬 Cholinergic synapse × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Cholinergic synapse × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 128. Cholinergic synapse × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
129	Chronic myeloid leukemia 💬	[2] MAP2K1, MAP2K2 💬 Chronic myeloid leukemia × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Chronic myeloid leukemia × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 129. Chronic myeloid leukemia × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
130	Chronic myeloid leukemia 💬	[2] MAP2K1, MAP2K2 💬 Chronic myeloid leukemia × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Chronic myeloid leukemia × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 130. Chronic myeloid leukemia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
131	Chronic myeloid leukemia 💬	[2] MAP2K1, MAP2K2 💬 Chronic myeloid leukemia × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Chronic myeloid leukemia × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 130. Chronic myeloid leukemia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
132	Chronic myeloid leukemia 💬	[1] PIK3CA 💬 Chronic myeloid leukemia × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Chronic myeloid leukemia × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 132. Chronic myeloid leukemia × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
133	Colorectal cancer 💬	[2] MAP2K1, MAP2K2 💬 Colorectal cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Colorectal cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 133. Colorectal cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
134	Colorectal cancer 💬	[2] MAP2K1, MAP2K2 💬 Colorectal cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Colorectal cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 134. Colorectal cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
135	Colorectal cancer 💬	[2] MAP2K1, MAP2K2 💬 Colorectal cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Colorectal cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 134. Colorectal cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
136	Colorectal cancer 💬	[1] MTOR 💬 Colorectal cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Colorectal cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 136. Colorectal cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
137	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 💬 137. 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;
138	Colorectal cancer 💬	[1] PIK3CA 💬 Colorectal cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Colorectal cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 138. Colorectal cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
139	Complement and coagulation cascades 💬	[1] SERPINC1 💬 Complement and coagulation cascades × Name Full Name SERPINC1 antithrombin-III isoform 1 precursor	Heparin sodium 💬 Complement and coagulation cascades × Name Other Names Heparin sodium Parnaparin sodium Liquemin sodium HEPARIN SODIUM AND DEXTROSE HEPARIN SODIUM IN DEXTROSE HEPARIN SODIUM IN SODIUM CHLORIDE	Heparin	[15] 47, 48, 60, 65, 70, 79, 84, 107, 224, 226, 280, 299, 316, 317, 344 💬 139. Complement and coagulation cascades × Disease ID Name 47 Buerger disease;Thromboangiitis obliterans; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 84 Sarcoidosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 299 Cystic fibrosis;CF; 316 Carnitine cycle disorder;Disorders of carnitine transport and the carnitine cycle;Carnitine palmitoyltransferase I deficiency;CPT1 deficiency;Carnitine palmitoyltransferase II deficiency;CPT2 deficiency;LC-FAOD;Carnitine-acylcarnitine translocase deficiency;CACT deficiency;Primary Carnitine deficiency;OCTN2 deficiency; 317 Trifunctional protein deficiency;TFP deficiency;LC-FAOD; 344 Very long-chain acyl-CoA dehydrogenase deficiency;Very long-chain acyl-coenzyme A dehydrogenase deficiency;Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency;VLCAD deficiency;VLCADD;LC-FAOD;
140	Complement and coagulation cascades 💬	[1] SERPINC1 💬 Complement and coagulation cascades × Name Full Name SERPINC1 antithrombin-III isoform 1 precursor	Heparin calcium 💬 Complement and coagulation cascades × Name Other Names Heparin calcium Nadroparin calcium Calciparin Calciparine	Heparin	[15] 47, 48, 60, 65, 70, 79, 84, 107, 224, 226, 280, 299, 316, 317, 344 💬 139. Complement and coagulation cascades × Disease ID Name 47 Buerger disease;Thromboangiitis obliterans; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 84 Sarcoidosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 299 Cystic fibrosis;CF; 316 Carnitine cycle disorder;Disorders of carnitine transport and the carnitine cycle;Carnitine palmitoyltransferase I deficiency;CPT1 deficiency;Carnitine palmitoyltransferase II deficiency;CPT2 deficiency;LC-FAOD;Carnitine-acylcarnitine translocase deficiency;CACT deficiency;Primary Carnitine deficiency;OCTN2 deficiency; 317 Trifunctional protein deficiency;TFP deficiency;LC-FAOD; 344 Very long-chain acyl-CoA dehydrogenase deficiency;Very long-chain acyl-coenzyme A dehydrogenase deficiency;Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency;VLCAD deficiency;VLCADD;LC-FAOD;
141	Coronavirus disease 💬	[1] PIK3CA 💬 Coronavirus disease × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Coronavirus disease × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 141. Coronavirus disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
142	Coronavirus disease 💬	[1] TNF 💬 Coronavirus disease × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Coronavirus disease × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 142. Coronavirus disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
143	Cushing syndrome 💬	[2] MAP2K1, MAP2K2 💬 Cushing syndrome × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Cushing syndrome × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 143. Cushing syndrome × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
144	Cushing syndrome 💬	[2] MAP2K1, MAP2K2 💬 Cushing syndrome × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Cushing syndrome × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 144. Cushing syndrome × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
145	Cushing syndrome 💬	[2] MAP2K1, MAP2K2 💬 Cushing syndrome × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Cushing syndrome × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 144. Cushing syndrome × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
146	Cytokine-cytokine receptor interaction 💬	[1] TNF 💬 Cytokine-cytokine receptor interaction × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Cytokine-cytokine receptor interaction × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 146. Cytokine-cytokine receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
147	Diabetic cardiomyopathy 💬	[1] MTOR 💬 Diabetic cardiomyopathy × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Diabetic cardiomyopathy × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 147. Diabetic cardiomyopathy × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
148	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 💬 148. 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;
149	Diabetic cardiomyopathy 💬	[1] PIK3CA 💬 Diabetic cardiomyopathy × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Diabetic cardiomyopathy × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 149. Diabetic cardiomyopathy × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
150	Dilated cardiomyopathy 💬	[1] TNF 💬 Dilated cardiomyopathy × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Dilated cardiomyopathy × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 150. Dilated cardiomyopathy × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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	Efferocytosis 💬	[2] MAP2K1, MAP2K2 💬 Efferocytosis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Efferocytosis × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 151. Efferocytosis × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
152	Efferocytosis 💬	[2] MAP2K1, MAP2K2 💬 Efferocytosis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Efferocytosis × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 152. Efferocytosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
153	Efferocytosis 💬	[2] MAP2K1, MAP2K2 💬 Efferocytosis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Efferocytosis × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 152. Efferocytosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
154	Endometrial cancer 💬	[2] MAP2K1, MAP2K2 💬 Endometrial cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Endometrial cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 154. Endometrial cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
155	Endometrial cancer 💬	[2] MAP2K1, MAP2K2 💬 Endometrial cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Endometrial cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 155. Endometrial cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
156	Endometrial cancer 💬	[2] MAP2K1, MAP2K2 💬 Endometrial cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Endometrial cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 155. Endometrial cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
157	Endometrial cancer 💬	[1] PIK3CA 💬 Endometrial cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Endometrial cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 157. Endometrial cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
158	Epstein-Barr virus infection 💬	[1] PIK3CA 💬 Epstein-Barr virus infection × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Epstein-Barr virus infection × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 158. Epstein-Barr virus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
159	Epstein-Barr virus infection 💬	[1] TNF 💬 Epstein-Barr virus infection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Epstein-Barr virus infection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 159. Epstein-Barr virus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
160	ErbB signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 ErbB signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 ErbB signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 160. ErbB signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
161	ErbB signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 ErbB signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 ErbB signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 161. ErbB signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
162	ErbB signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 ErbB signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 ErbB signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 161. ErbB signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
163	ErbB signaling pathway 💬	[1] MTOR 💬 ErbB signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 ErbB signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 163. ErbB signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
164	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 💬 164. 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;
165	ErbB signaling pathway 💬	[1] PIK3CA 💬 ErbB signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 ErbB signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 165. ErbB signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
166	Estrogen signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Estrogen signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Estrogen signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 166. Estrogen signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
167	Estrogen signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Estrogen signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Estrogen signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 167. Estrogen signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
168	Estrogen signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Estrogen signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Estrogen signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 167. Estrogen signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
169	Estrogen signaling pathway 💬	[1] OPRM1 💬 Estrogen signaling pathway × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil citrate 💬 Estrogen signaling pathway × Name Other Names Sufentanil citrate Dsuvia Sufenta	Sufentanil	[5] 11, 22, 46, 70, 280 💬 169. Estrogen signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
170	Estrogen signaling pathway 💬	[1] OPRM1 💬 Estrogen signaling pathway × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil 💬 Estrogen signaling pathway × Name Other Names Sufentanil Sufentanil	Sufentanil	[5] 11, 22, 46, 70, 280 💬 169. Estrogen signaling pathway × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
171	Estrogen signaling pathway 💬	[1] PIK3CA 💬 Estrogen signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Estrogen signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 171. Estrogen signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
172	Fc epsilon RI signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Fc epsilon RI signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Fc epsilon RI signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 172. Fc epsilon RI signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
173	Fc epsilon RI signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Fc epsilon RI signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Fc epsilon RI signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 173. Fc epsilon RI signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
174	Fc epsilon RI signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Fc epsilon RI signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Fc epsilon RI signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 173. Fc epsilon RI signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
175	Fc epsilon RI signaling pathway 💬	[1] PIK3CA 💬 Fc epsilon RI signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Fc epsilon RI signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 175. Fc epsilon RI signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
176	Fc epsilon RI signaling pathway 💬	[1] TNF 💬 Fc epsilon RI signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Fc epsilon RI signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 176. Fc epsilon RI signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
177	Fc gamma R-mediated phagosome formation 💬	[1] MAP2K1 💬 Fc gamma R-mediated phagosome formation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Fc gamma R-mediated phagosome formation × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 177. Fc gamma R-mediated phagosome formation × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
178	Fc gamma R-mediated phagosome formation 💬	[1] MAP2K1 💬 Fc gamma R-mediated phagosome formation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Fc gamma R-mediated phagosome formation × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 178. Fc gamma R-mediated phagosome formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
179	Fc gamma R-mediated phagosome formation 💬	[1] MAP2K1 💬 Fc gamma R-mediated phagosome formation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Fc gamma R-mediated phagosome formation × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 178. Fc gamma R-mediated phagosome formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
180	Fc gamma R-mediated phagosome formation 💬	[1] PIK3CA 💬 Fc gamma R-mediated phagosome formation × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Fc gamma R-mediated phagosome formation × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 180. Fc gamma R-mediated phagosome formation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
181	Fluid shear stress and atherosclerosis 💬	[1] PIK3CA 💬 Fluid shear stress and atherosclerosis × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Fluid shear stress and atherosclerosis × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 181. Fluid shear stress and atherosclerosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
182	Fluid shear stress and atherosclerosis 💬	[1] TNF 💬 Fluid shear stress and atherosclerosis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Fluid shear stress and atherosclerosis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 182. Fluid shear stress and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
183	Fluid shear stress and atherosclerosis 💬	[1] VEGFA 💬 Fluid shear stress and atherosclerosis × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Fluid shear stress and atherosclerosis × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 183. Fluid shear stress and atherosclerosis × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
184	Focal adhesion 💬	[1] MAP2K1 💬 Focal adhesion × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Focal adhesion × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 184. Focal adhesion × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
185	Focal adhesion 💬	[1] MAP2K1 💬 Focal adhesion × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Focal adhesion × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 185. Focal adhesion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
186	Focal adhesion 💬	[1] MAP2K1 💬 Focal adhesion × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Focal adhesion × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 185. Focal adhesion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
187	Focal adhesion 💬	[1] PIK3CA 💬 Focal adhesion × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Focal adhesion × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 187. Focal adhesion × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
188	Focal adhesion 💬	[1] VEGFA 💬 Focal adhesion × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Focal adhesion × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 188. Focal adhesion × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
189	FoxO signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 FoxO signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 FoxO signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 189. FoxO signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
190	FoxO signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 FoxO signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 FoxO signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 190. FoxO signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
191	FoxO signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 FoxO signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 FoxO signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 190. FoxO signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
192	FoxO signaling pathway 💬	[1] PIK3CA 💬 FoxO signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 FoxO signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 192. FoxO signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
193	Gap junction 💬	[2] MAP2K1, MAP2K2 💬 Gap junction × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Gap junction × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 193. Gap junction × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
194	Gap junction 💬	[2] MAP2K1, MAP2K2 💬 Gap junction × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Gap junction × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 194. Gap junction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
195	Gap junction 💬	[2] MAP2K1, MAP2K2 💬 Gap junction × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Gap junction × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 194. Gap junction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
196	Gastric cancer 💬	[2] MAP2K1, MAP2K2 💬 Gastric cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Gastric cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 196. Gastric cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
197	Gastric cancer 💬	[2] MAP2K1, MAP2K2 💬 Gastric cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Gastric cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 197. Gastric cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
198	Gastric cancer 💬	[2] MAP2K1, MAP2K2 💬 Gastric cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Gastric cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 197. Gastric cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
199	Gastric cancer 💬	[1] MTOR 💬 Gastric cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Gastric cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 199. Gastric cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
200	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 💬 200. 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;
201	Gastric cancer 💬	[1] PIK3CA 💬 Gastric cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Gastric cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 201. Gastric cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
202	Glioma 💬	[2] MAP2K1, MAP2K2 💬 Glioma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Glioma × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 202. Glioma × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
203	Glioma 💬	[2] MAP2K1, MAP2K2 💬 Glioma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Glioma × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 203. Glioma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
204	Glioma 💬	[2] MAP2K1, MAP2K2 💬 Glioma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Glioma × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 203. Glioma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
205	Glioma 💬	[1] MTOR 💬 Glioma × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Glioma × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 205. Glioma × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
206	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 💬 206. 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;
207	Glioma 💬	[1] PIK3CA 💬 Glioma × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Glioma × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 207. Glioma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
208	GnRH secretion 💬	[2] MAP2K1, MAP2K2 💬 GnRH secretion × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 GnRH secretion × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 208. GnRH secretion × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
209	GnRH secretion 💬	[2] MAP2K1, MAP2K2 💬 GnRH secretion × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 GnRH secretion × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 209. GnRH secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
210	GnRH secretion 💬	[2] MAP2K1, MAP2K2 💬 GnRH secretion × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 GnRH secretion × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 209. GnRH secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
211	GnRH secretion 💬	[1] PIK3CA 💬 GnRH secretion × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 GnRH secretion × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 211. GnRH secretion × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
212	GnRH signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 GnRH signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 GnRH signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 212. GnRH signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
213	GnRH signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 GnRH signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 GnRH signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 213. GnRH signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
214	GnRH signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 GnRH signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 GnRH signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 213. GnRH signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
215	Graft-versus-host disease 💬	[1] TNF 💬 Graft-versus-host disease × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Graft-versus-host disease × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 215. Graft-versus-host disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
216	Growth hormone synthesis, secretion and action 💬	[2] MAP2K1, MAP2K2 💬 Growth hormone synthesis, secretion and action × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Growth hormone synthesis, secretion and action × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 216. Growth hormone synthesis, secretion and action × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
217	Growth hormone synthesis, secretion and action 💬	[2] MAP2K1, MAP2K2 💬 Growth hormone synthesis, secretion and action × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Growth hormone synthesis, secretion and action × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 217. Growth hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
218	Growth hormone synthesis, secretion and action 💬	[2] MAP2K1, MAP2K2 💬 Growth hormone synthesis, secretion and action × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Growth hormone synthesis, secretion and action × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 217. Growth hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
219	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	Everolimus 💬 Growth hormone synthesis, secretion and action × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 219. Growth hormone synthesis, secretion and action × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
220	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 💬 220. 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;
221	Growth hormone synthesis, secretion and action 💬	[1] PIK3CA 💬 Growth hormone synthesis, secretion and action × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Growth hormone synthesis, secretion and action × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 221. Growth hormone synthesis, secretion and action × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
222	Hematopoietic cell lineage 💬	[1] TNF 💬 Hematopoietic cell lineage × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Hematopoietic cell lineage × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 222. Hematopoietic cell lineage × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
223	Hepatitis B 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis B × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Hepatitis B × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 223. Hepatitis B × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
224	Hepatitis B 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis B × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Hepatitis B × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 224. Hepatitis B × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
225	Hepatitis B 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis B × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Hepatitis B × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 224. Hepatitis B × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
226	Hepatitis B 💬	[1] PIK3CA 💬 Hepatitis B × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Hepatitis B × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 226. Hepatitis B × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
227	Hepatitis B 💬	[1] TNF 💬 Hepatitis B × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Hepatitis B × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 227. Hepatitis B × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
228	Hepatitis C 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis C × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Hepatitis C × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 228. Hepatitis C × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
229	Hepatitis C 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis C × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Hepatitis C × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 229. Hepatitis C × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
230	Hepatitis C 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis C × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Hepatitis C × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 229. Hepatitis C × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
231	Hepatitis C 💬	[1] PIK3CA 💬 Hepatitis C × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Hepatitis C × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 231. Hepatitis C × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
232	Hepatitis C 💬	[1] TNF 💬 Hepatitis C × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Hepatitis C × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 232. Hepatitis C × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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	Hepatocellular carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Hepatocellular carcinoma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Hepatocellular carcinoma × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 233. Hepatocellular carcinoma × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
234	Hepatocellular carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Hepatocellular carcinoma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Hepatocellular carcinoma × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 234. Hepatocellular carcinoma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
235	Hepatocellular carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Hepatocellular carcinoma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Hepatocellular carcinoma × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 234. Hepatocellular carcinoma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
236	Hepatocellular carcinoma 💬	[1] MTOR 💬 Hepatocellular carcinoma × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Hepatocellular carcinoma × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 236. Hepatocellular carcinoma × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
237	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 💬 237. 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;
238	Hepatocellular carcinoma 💬	[1] PIK3CA 💬 Hepatocellular carcinoma × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Hepatocellular carcinoma × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 238. Hepatocellular carcinoma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
239	Herpes simplex virus 1 infection 💬	[1] MTOR 💬 Herpes simplex virus 1 infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Herpes simplex virus 1 infection × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 239. Herpes simplex virus 1 infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
240	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 💬 240. 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;
241	Herpes simplex virus 1 infection 💬	[1] PIK3CA 💬 Herpes simplex virus 1 infection × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Herpes simplex virus 1 infection × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 241. Herpes simplex virus 1 infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
242	Herpes simplex virus 1 infection 💬	[1] TNF 💬 Herpes simplex virus 1 infection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Herpes simplex virus 1 infection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 242. Herpes simplex virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
243	HIF-1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 HIF-1 signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 HIF-1 signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 243. HIF-1 signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
244	HIF-1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 HIF-1 signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 HIF-1 signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 244. HIF-1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
245	HIF-1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 HIF-1 signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 HIF-1 signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 244. HIF-1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
246	HIF-1 signaling pathway 💬	[1] MTOR 💬 HIF-1 signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 HIF-1 signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 246. HIF-1 signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
247	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 💬 247. 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;
248	HIF-1 signaling pathway 💬	[1] PIK3CA 💬 HIF-1 signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 HIF-1 signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 248. HIF-1 signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
249	HIF-1 signaling pathway 💬	[1] VEGFA 💬 HIF-1 signaling pathway × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 HIF-1 signaling pathway × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 249. HIF-1 signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
250	Hormone signaling 💬	[3] ADRA2A, ADRA2B, ADRA2C 💬 Hormone signaling × Name Full Name ADRA2A alpha-2A adrenergic receptor ADRA2B alpha-2B adrenergic receptor ADRA2C alpha-2C adrenergic receptor	Dexmedetomidine 💬 Hormone signaling × Name Other Names Dexmedetomidine Dexdor Precedex	Dexmedetomidine	[15]  2 ,  4 ,  6 , 21, 22, 34, 46, 70, 107, 113, 171, 212, 215, 226, 280 💬 250. Hormone signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 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; 171 Wilson disease;WD; 212 Tricuspid atresia;TA; 215 Tetralogy of Fallot;Fallot tetralogy; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
251	Hormone signaling 💬	[3] ADRA2A, ADRA2B, ADRA2C 💬 Hormone signaling × Name Full Name ADRA2A alpha-2A adrenergic receptor ADRA2B alpha-2B adrenergic receptor ADRA2C alpha-2C adrenergic receptor	Dexmedetomidine hydrochloride 💬 Hormone signaling × Name Other Names Dexmedetomidine hydrochloride Igalmi Precedex DEXMEDETOMIDINE DEXMEDETOMIDINE HCL DEXMEDETOMIDINE HYDROCHLORIDE IN 0.9% SODIUM CHLORIDE DEXMEDETOMIDINE HYDROCHLORIDE IN SODIUM CHLORIDE	Dexmedetomidine	[15]  2 ,  4 ,  6 , 21, 22, 34, 46, 70, 107, 113, 171, 212, 215, 226, 280 💬 250. Hormone signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 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; 171 Wilson disease;WD; 212 Tricuspid atresia;TA; 215 Tetralogy of Fallot;Fallot tetralogy; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
252	Hormone signaling 💬	[1] OPRM1 💬 Hormone signaling × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil citrate 💬 Hormone signaling × Name Other Names Sufentanil citrate Dsuvia Sufenta	Sufentanil	[5] 11, 22, 46, 70, 280 💬 252. Hormone signaling × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
253	Hormone signaling 💬	[1] OPRM1 💬 Hormone signaling × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil 💬 Hormone signaling × Name Other Names Sufentanil Sufentanil	Sufentanil	[5] 11, 22, 46, 70, 280 💬 252. Hormone signaling × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
254	Hormone signaling 💬	[1] PIK3CA 💬 Hormone signaling × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Hormone signaling × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 254. Hormone signaling × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
255	Human cytomegalovirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human cytomegalovirus infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Human cytomegalovirus infection × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 255. Human cytomegalovirus infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
256	Human cytomegalovirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human cytomegalovirus infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Human cytomegalovirus infection × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 256. Human cytomegalovirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
257	Human cytomegalovirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human cytomegalovirus infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Human cytomegalovirus infection × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 256. Human cytomegalovirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
258	Human cytomegalovirus infection 💬	[1] MTOR 💬 Human cytomegalovirus infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Human cytomegalovirus infection × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 258. Human cytomegalovirus infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
259	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 💬 259. 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;
260	Human cytomegalovirus infection 💬	[1] PIK3CA 💬 Human cytomegalovirus infection × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Human cytomegalovirus infection × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 260. Human cytomegalovirus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
261	Human cytomegalovirus infection 💬	[1] TNF 💬 Human cytomegalovirus infection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Human cytomegalovirus infection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 261. Human cytomegalovirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
262	Human cytomegalovirus infection 💬	[1] VEGFA 💬 Human cytomegalovirus infection × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Human cytomegalovirus infection × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 262. Human cytomegalovirus infection × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
263	Human immunodeficiency virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human immunodeficiency virus 1 infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Human immunodeficiency virus 1 infection × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 263. Human immunodeficiency virus 1 infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
264	Human immunodeficiency virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human immunodeficiency virus 1 infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Human immunodeficiency virus 1 infection × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 264. Human immunodeficiency virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
265	Human immunodeficiency virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human immunodeficiency virus 1 infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Human immunodeficiency virus 1 infection × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 264. Human immunodeficiency virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
266	Human immunodeficiency virus 1 infection 💬	[1] MTOR 💬 Human immunodeficiency virus 1 infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Human immunodeficiency virus 1 infection × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 266. Human immunodeficiency virus 1 infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
267	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 💬 267. 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;
268	Human immunodeficiency virus 1 infection 💬	[1] PIK3CA 💬 Human immunodeficiency virus 1 infection × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Human immunodeficiency virus 1 infection × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 268. Human immunodeficiency virus 1 infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
269	Human immunodeficiency virus 1 infection 💬	[1] TNF 💬 Human immunodeficiency virus 1 infection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Human immunodeficiency virus 1 infection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 269. Human immunodeficiency virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
270	Human papillomavirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human papillomavirus infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Human papillomavirus infection × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 270. Human papillomavirus infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
271	Human papillomavirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human papillomavirus infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Human papillomavirus infection × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 271. Human papillomavirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
272	Human papillomavirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human papillomavirus infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Human papillomavirus infection × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 271. Human papillomavirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
273	Human papillomavirus infection 💬	[1] MTOR 💬 Human papillomavirus infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Human papillomavirus infection × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 273. Human papillomavirus infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
274	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 💬 274. 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;
275	Human papillomavirus infection 💬	[1] PIK3CA 💬 Human papillomavirus infection × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Human papillomavirus infection × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 275. Human papillomavirus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
276	Human papillomavirus infection 💬	[1] TNF 💬 Human papillomavirus infection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Human papillomavirus infection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 276. Human papillomavirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
277	Human papillomavirus infection 💬	[1] VEGFA 💬 Human papillomavirus infection × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Human papillomavirus infection × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 277. Human papillomavirus infection × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
278	Human T-cell leukemia virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human T-cell leukemia virus 1 infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 278. Human T-cell leukemia virus 1 infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
279	Human T-cell leukemia virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human T-cell leukemia virus 1 infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 279. Human T-cell leukemia virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
280	Human T-cell leukemia virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human T-cell leukemia virus 1 infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Human T-cell leukemia virus 1 infection × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 279. Human T-cell leukemia virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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	Human T-cell leukemia virus 1 infection 💬	[1] PIK3CA 💬 Human T-cell leukemia virus 1 infection × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 281. Human T-cell leukemia virus 1 infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
282	Human T-cell leukemia virus 1 infection 💬	[1] TNF 💬 Human T-cell leukemia virus 1 infection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Human T-cell leukemia virus 1 infection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 282. Human T-cell leukemia virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
283	Huntington disease 💬	[1] MTOR 💬 Huntington disease × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Huntington disease × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 283. Huntington disease × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
284	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 💬 284. 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;
285	Hypertrophic cardiomyopathy 💬	[1] TNF 💬 Hypertrophic cardiomyopathy × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Hypertrophic cardiomyopathy × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 285. Hypertrophic cardiomyopathy × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
286	IgSF CAM signaling 💬	[2] MAP2K1, MAP2K2 💬 IgSF CAM signaling × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 IgSF CAM signaling × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 286. IgSF CAM signaling × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
287	IgSF CAM signaling 💬	[2] MAP2K1, MAP2K2 💬 IgSF CAM signaling × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 IgSF CAM signaling × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 287. IgSF CAM signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
288	IgSF CAM signaling 💬	[2] MAP2K1, MAP2K2 💬 IgSF CAM signaling × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 IgSF CAM signaling × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 287. IgSF CAM signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
289	IgSF CAM signaling 💬	[1] PIK3CA 💬 IgSF CAM signaling × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 IgSF CAM signaling × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 289. IgSF CAM signaling × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
290	IL-17 signaling pathway 💬	[1] TNF 💬 IL-17 signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 IL-17 signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 290. IL-17 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
291	Inflammatory bowel disease 💬	[1] TNF 💬 Inflammatory bowel disease × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Inflammatory bowel disease × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 291. Inflammatory bowel disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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	Inflammatory mediator regulation of TRP channels 💬	[1] PIK3CA 💬 Inflammatory mediator regulation of TRP channels × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 292. Inflammatory mediator regulation of TRP channels × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
293	Influenza A 💬	[2] MAP2K1, MAP2K2 💬 Influenza A × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Influenza A × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 293. Influenza A × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
294	Influenza A 💬	[2] MAP2K1, MAP2K2 💬 Influenza A × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Influenza A × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 294. Influenza A × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
295	Influenza A 💬	[2] MAP2K1, MAP2K2 💬 Influenza A × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Influenza A × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 294. Influenza A × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
296	Influenza A 💬	[1] PIK3CA 💬 Influenza A × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Influenza A × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 296. Influenza A × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
297	Influenza A 💬	[1] TNF 💬 Influenza A × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Influenza A × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 297. Influenza A × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
298	Inositol phosphate metabolism 💬	[1] PIK3CA 💬 Inositol phosphate metabolism × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Inositol phosphate metabolism × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 298. Inositol phosphate metabolism × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
299	Insulin resistance 💬	[1] MTOR 💬 Insulin resistance × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Insulin resistance × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 299. Insulin resistance × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
300	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 💬 300. 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;
301	Insulin resistance 💬	[1] PIK3CA 💬 Insulin resistance × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Insulin resistance × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 301. Insulin resistance × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
302	Insulin resistance 💬	[1] TNF 💬 Insulin resistance × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Insulin resistance × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 302. Insulin resistance × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
303	Insulin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Insulin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Insulin signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 303. Insulin signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
304	Insulin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Insulin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Insulin signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 304. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
305	Insulin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Insulin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Insulin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 304. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
306	Insulin signaling pathway 💬	[1] MTOR 💬 Insulin signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Insulin signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 306. Insulin signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
307	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 💬 307. 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;
308	Insulin signaling pathway 💬	[1] PIK3CA 💬 Insulin signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Insulin signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 308. Insulin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
309	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	Everolimus 💬 Integrated stress response (ISR) signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 309. Integrated stress response (ISR) signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
310	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 💬 310. 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;
311	Integrin signaling 💬	[1] MTOR 💬 Integrin signaling × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Integrin signaling × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 311. Integrin signaling × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
312	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 💬 312. 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;
313	Integrin signaling 💬	[1] PIK3CA 💬 Integrin signaling × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Integrin signaling × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 313. Integrin signaling × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
314	Integrin signaling 💬	[1] VEGFA 💬 Integrin signaling × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Integrin signaling × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 314. Integrin signaling × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
315	JAK-STAT signaling pathway 💬	[1] MTOR 💬 JAK-STAT signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 JAK-STAT signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 315. JAK-STAT signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
316	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 💬 316. 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;
317	JAK-STAT signaling pathway 💬	[1] PIK3CA 💬 JAK-STAT signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 JAK-STAT signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 317. JAK-STAT signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
318	Kaposi sarcoma-associated herpesvirus infection 💬	[2] MAP2K1, MAP2K2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 318. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
319	Kaposi sarcoma-associated herpesvirus infection 💬	[2] MAP2K1, MAP2K2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 319. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
320	Kaposi sarcoma-associated herpesvirus infection 💬	[2] MAP2K1, MAP2K2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 319. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
321	Kaposi sarcoma-associated herpesvirus infection 💬	[1] MTOR 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 321. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
322	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 💬 322. 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;
323	Kaposi sarcoma-associated herpesvirus infection 💬	[1] PIK3CA 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 323. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
324	Kaposi sarcoma-associated herpesvirus infection 💬	[1] VEGFA 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 324. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
325	Legionellosis 💬	[1] TNF 💬 Legionellosis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Legionellosis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 325. Legionellosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
326	Leishmaniasis 💬	[1] TNF 💬 Leishmaniasis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Leishmaniasis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 326. Leishmaniasis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
327	Leukocyte transendothelial migration 💬	[1] PIK3CA 💬 Leukocyte transendothelial migration × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Leukocyte transendothelial migration × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 327. Leukocyte transendothelial migration × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
328	Lipid and atherosclerosis 💬	[1] PIK3CA 💬 Lipid and atherosclerosis × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Lipid and atherosclerosis × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 328. Lipid and atherosclerosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
329	Lipid and atherosclerosis 💬	[1] TNF 💬 Lipid and atherosclerosis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Lipid and atherosclerosis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 329. Lipid and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
330	Long-term depression 💬	[2] MAP2K1, MAP2K2 💬 Long-term depression × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Long-term depression × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 330. Long-term depression × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
331	Long-term depression 💬	[2] MAP2K1, MAP2K2 💬 Long-term depression × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Long-term depression × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 331. Long-term depression × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
332	Long-term depression 💬	[2] MAP2K1, MAP2K2 💬 Long-term depression × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Long-term depression × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 331. Long-term depression × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
333	Long-term potentiation 💬	[2] MAP2K1, MAP2K2 💬 Long-term potentiation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Long-term potentiation × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 333. Long-term potentiation × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
334	Long-term potentiation 💬	[2] MAP2K1, MAP2K2 💬 Long-term potentiation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Long-term potentiation × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 334. Long-term potentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
335	Long-term potentiation 💬	[2] MAP2K1, MAP2K2 💬 Long-term potentiation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Long-term potentiation × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 334. Long-term potentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
336	Longevity regulating pathway 💬	[1] MTOR 💬 Longevity regulating pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Longevity regulating pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 336. Longevity regulating pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
337	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 💬 337. 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;
338	Longevity regulating pathway 💬	[1] PIK3CA 💬 Longevity regulating pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Longevity regulating pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 338. Longevity regulating pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
339	Longevity regulating pathway - multiple species 💬	[1] MTOR 💬 Longevity regulating pathway - multiple species × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Longevity regulating pathway - multiple species × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 339. Longevity regulating pathway - multiple species × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
340	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 💬 340. 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;
341	Longevity regulating pathway - multiple species 💬	[1] PIK3CA 💬 Longevity regulating pathway - multiple species × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Longevity regulating pathway - multiple species × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 341. Longevity regulating pathway - multiple species × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
342	Lysosome biogenesis 💬	[1] MTOR 💬 Lysosome biogenesis × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Lysosome biogenesis × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 342. Lysosome biogenesis × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
343	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 💬 343. 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;
344	Malaria 💬	[1] TNF 💬 Malaria × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Malaria × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 344. Malaria × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
345	MAPK signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 MAPK signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 MAPK signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 345. MAPK signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
346	MAPK signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 MAPK signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 MAPK signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 346. MAPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
347	MAPK signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 MAPK signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 MAPK signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 346. MAPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
348	MAPK signaling pathway 💬	[1] TNF 💬 MAPK signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 MAPK signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 348. MAPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
349	MAPK signaling pathway 💬	[1] VEGFA 💬 MAPK signaling pathway × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 MAPK signaling pathway × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 349. MAPK signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
350	Measles 💬	[1] PIK3CA 💬 Measles × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Measles × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 350. Measles × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
351	Melanogenesis 💬	[2] MAP2K1, MAP2K2 💬 Melanogenesis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Melanogenesis × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 351. Melanogenesis × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
352	Melanogenesis 💬	[2] MAP2K1, MAP2K2 💬 Melanogenesis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Melanogenesis × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 352. Melanogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
353	Melanogenesis 💬	[2] MAP2K1, MAP2K2 💬 Melanogenesis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Melanogenesis × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 352. Melanogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
354	Melanoma 💬	[2] MAP2K1, MAP2K2 💬 Melanoma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Melanoma × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 354. Melanoma × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
355	Melanoma 💬	[2] MAP2K1, MAP2K2 💬 Melanoma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Melanoma × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 355. Melanoma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
356	Melanoma 💬	[2] MAP2K1, MAP2K2 💬 Melanoma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Melanoma × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 355. Melanoma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
357	Melanoma 💬	[1] PIK3CA 💬 Melanoma × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Melanoma × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 357. Melanoma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
358	MicroRNAs in cancer 💬	[2] MAP2K1, MAP2K2 💬 MicroRNAs in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 MicroRNAs in cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 358. MicroRNAs in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
359	MicroRNAs in cancer 💬	[2] MAP2K1, MAP2K2 💬 MicroRNAs in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 MicroRNAs in cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 359. MicroRNAs in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
360	MicroRNAs in cancer 💬	[2] MAP2K1, MAP2K2 💬 MicroRNAs in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 MicroRNAs in cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 359. MicroRNAs in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
361	MicroRNAs in cancer 💬	[1] MTOR 💬 MicroRNAs in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 MicroRNAs in cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 361. MicroRNAs in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
362	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 💬 362. 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;
363	MicroRNAs in cancer 💬	[1] PIK3CA 💬 MicroRNAs in cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 MicroRNAs in cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 363. MicroRNAs in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
364	MicroRNAs in cancer 💬	[1] VEGFA 💬 MicroRNAs in cancer × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 MicroRNAs in cancer × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 364. MicroRNAs in cancer × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
365	Morphine addiction 💬	[1] OPRM1 💬 Morphine addiction × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil citrate 💬 Morphine addiction × Name Other Names Sufentanil citrate Dsuvia Sufenta	Sufentanil	[5] 11, 22, 46, 70, 280 💬 365. Morphine addiction × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
366	Morphine addiction 💬	[1] OPRM1 💬 Morphine addiction × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil 💬 Morphine addiction × Name Other Names Sufentanil Sufentanil	Sufentanil	[5] 11, 22, 46, 70, 280 💬 365. Morphine addiction × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
367	mTOR signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 mTOR signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 mTOR signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 367. mTOR signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
368	mTOR signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 mTOR signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 mTOR signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 368. mTOR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
369	mTOR signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 mTOR signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 mTOR signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 368. mTOR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
370	mTOR signaling pathway 💬	[1] MTOR 💬 mTOR signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 mTOR signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 370. mTOR signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
371	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 💬 371. 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;
372	mTOR signaling pathway 💬	[1] PIK3CA 💬 mTOR signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 mTOR signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 372. mTOR signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
373	mTOR signaling pathway 💬	[1] TNF 💬 mTOR signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 mTOR signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 373. mTOR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
374	Natural killer cell mediated cytotoxicity 💬	[2] MAP2K1, MAP2K2 💬 Natural killer cell mediated cytotoxicity × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 374. Natural killer cell mediated cytotoxicity × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
375	Natural killer cell mediated cytotoxicity 💬	[2] MAP2K1, MAP2K2 💬 Natural killer cell mediated cytotoxicity × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 375. Natural killer cell mediated cytotoxicity × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
376	Natural killer cell mediated cytotoxicity 💬	[2] MAP2K1, MAP2K2 💬 Natural killer cell mediated cytotoxicity × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Natural killer cell mediated cytotoxicity × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 375. Natural killer cell mediated cytotoxicity × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
377	Natural killer cell mediated cytotoxicity 💬	[1] PIK3CA 💬 Natural killer cell mediated cytotoxicity × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 377. Natural killer cell mediated cytotoxicity × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
378	Natural killer cell mediated cytotoxicity 💬	[1] TNF 💬 Natural killer cell mediated cytotoxicity × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Natural killer cell mediated cytotoxicity × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 378. Natural killer cell mediated cytotoxicity × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
379	Necroptosis 💬	[1] TNF 💬 Necroptosis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Necroptosis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 379. Necroptosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
380	Neuroactive ligand signaling 💬	[3] ADRA2A, ADRA2B, ADRA2C 💬 Neuroactive ligand signaling × Name Full Name ADRA2A alpha-2A adrenergic receptor ADRA2B alpha-2B adrenergic receptor ADRA2C alpha-2C adrenergic receptor	Dexmedetomidine 💬 Neuroactive ligand signaling × Name Other Names Dexmedetomidine Dexdor Precedex	Dexmedetomidine	[15]  2 ,  4 ,  6 , 21, 22, 34, 46, 70, 107, 113, 171, 212, 215, 226, 280 💬 380. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 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; 171 Wilson disease;WD; 212 Tricuspid atresia;TA; 215 Tetralogy of Fallot;Fallot tetralogy; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
381	Neuroactive ligand signaling 💬	[3] ADRA2A, ADRA2B, ADRA2C 💬 Neuroactive ligand signaling × Name Full Name ADRA2A alpha-2A adrenergic receptor ADRA2B alpha-2B adrenergic receptor ADRA2C alpha-2C adrenergic receptor	Dexmedetomidine hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Dexmedetomidine hydrochloride Igalmi Precedex DEXMEDETOMIDINE DEXMEDETOMIDINE HCL DEXMEDETOMIDINE HYDROCHLORIDE IN 0.9% SODIUM CHLORIDE DEXMEDETOMIDINE HYDROCHLORIDE IN SODIUM CHLORIDE	Dexmedetomidine	[15]  2 ,  4 ,  6 , 21, 22, 34, 46, 70, 107, 113, 171, 212, 215, 226, 280 💬 380. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 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; 171 Wilson disease;WD; 212 Tricuspid atresia;TA; 215 Tetralogy of Fallot;Fallot tetralogy; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
382	Neuroactive ligand signaling 💬	[1] OPRM1 💬 Neuroactive ligand signaling × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil citrate 💬 Neuroactive ligand signaling × Name Other Names Sufentanil citrate Dsuvia Sufenta	Sufentanil	[5] 11, 22, 46, 70, 280 💬 382. Neuroactive ligand signaling × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
383	Neuroactive ligand signaling 💬	[1] OPRM1 💬 Neuroactive ligand signaling × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil 💬 Neuroactive ligand signaling × Name Other Names Sufentanil Sufentanil	Sufentanil	[5] 11, 22, 46, 70, 280 💬 382. Neuroactive ligand signaling × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
384	Neuroactive ligand-receptor interaction 💬	[3] ADRA2A, ADRA2B, ADRA2C 💬 Neuroactive ligand-receptor interaction × Name Full Name ADRA2A alpha-2A adrenergic receptor ADRA2B alpha-2B adrenergic receptor ADRA2C alpha-2C adrenergic receptor	Dexmedetomidine 💬 Neuroactive ligand-receptor interaction × Name Other Names Dexmedetomidine Dexdor Precedex	Dexmedetomidine	[15]  2 ,  4 ,  6 , 21, 22, 34, 46, 70, 107, 113, 171, 212, 215, 226, 280 💬 384. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 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; 171 Wilson disease;WD; 212 Tricuspid atresia;TA; 215 Tetralogy of Fallot;Fallot tetralogy; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
385	Neuroactive ligand-receptor interaction 💬	[3] ADRA2A, ADRA2B, ADRA2C 💬 Neuroactive ligand-receptor interaction × Name Full Name ADRA2A alpha-2A adrenergic receptor ADRA2B alpha-2B adrenergic receptor ADRA2C alpha-2C adrenergic receptor	Dexmedetomidine hydrochloride 💬 Neuroactive ligand-receptor interaction × Name Other Names Dexmedetomidine hydrochloride Igalmi Precedex DEXMEDETOMIDINE DEXMEDETOMIDINE HCL DEXMEDETOMIDINE HYDROCHLORIDE IN 0.9% SODIUM CHLORIDE DEXMEDETOMIDINE HYDROCHLORIDE IN SODIUM CHLORIDE	Dexmedetomidine	[15]  2 ,  4 ,  6 , 21, 22, 34, 46, 70, 107, 113, 171, 212, 215, 226, 280 💬 384. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 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; 171 Wilson disease;WD; 212 Tricuspid atresia;TA; 215 Tetralogy of Fallot;Fallot tetralogy; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
386	Neuroactive ligand-receptor interaction 💬	[1] OPRM1 💬 Neuroactive ligand-receptor interaction × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil citrate 💬 Neuroactive ligand-receptor interaction × Name Other Names Sufentanil citrate Dsuvia Sufenta	Sufentanil	[5] 11, 22, 46, 70, 280 💬 386. Neuroactive ligand-receptor interaction × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
387	Neuroactive ligand-receptor interaction 💬	[1] OPRM1 💬 Neuroactive ligand-receptor interaction × Name Full Name OPRM1 mu-type opioid receptor isoform MOR-1	Sufentanil 💬 Neuroactive ligand-receptor interaction × Name Other Names Sufentanil Sufentanil	Sufentanil	[5] 11, 22, 46, 70, 280 💬 386. Neuroactive ligand-receptor interaction × Disease ID Name 11 Myasthenia gravis;MG; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 70 Spinal stenosis;Extensive spinal canal stenosis; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
388	Neurotrophin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Neurotrophin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Neurotrophin signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 388. Neurotrophin signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
389	Neurotrophin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Neurotrophin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Neurotrophin signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 389. Neurotrophin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
390	Neurotrophin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Neurotrophin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Neurotrophin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 389. Neurotrophin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
391	Neurotrophin signaling pathway 💬	[1] PIK3CA 💬 Neurotrophin signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Neurotrophin signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 391. Neurotrophin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
392	Neutrophil extracellular trap formation 💬	[2] MAP2K1, MAP2K2 💬 Neutrophil extracellular trap formation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Neutrophil extracellular trap formation × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 392. Neutrophil extracellular trap formation × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
393	Neutrophil extracellular trap formation 💬	[2] MAP2K1, MAP2K2 💬 Neutrophil extracellular trap formation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Neutrophil extracellular trap formation × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 393. Neutrophil extracellular trap formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
394	Neutrophil extracellular trap formation 💬	[2] MAP2K1, MAP2K2 💬 Neutrophil extracellular trap formation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Neutrophil extracellular trap formation × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 393. Neutrophil extracellular trap formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
395	Neutrophil extracellular trap formation 💬	[1] MTOR 💬 Neutrophil extracellular trap formation × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Neutrophil extracellular trap formation × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 395. Neutrophil extracellular trap formation × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
396	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 💬 396. 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;
397	Neutrophil extracellular trap formation 💬	[1] PIK3CA 💬 Neutrophil extracellular trap formation × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Neutrophil extracellular trap formation × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 397. Neutrophil extracellular trap formation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
398	NF-kappa B signaling pathway 💬	[1] TNF 💬 NF-kappa B signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 NF-kappa B signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 398. NF-kappa B signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
399	NOD-like receptor signaling pathway 💬	[1] TNF 💬 NOD-like receptor signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 NOD-like receptor signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 399. NOD-like receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
400	Non-alcoholic fatty liver disease 💬	[1] PIK3CA 💬 Non-alcoholic fatty liver disease × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Non-alcoholic fatty liver disease × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 400. Non-alcoholic fatty liver disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
401	Non-alcoholic fatty liver disease 💬	[1] TNF 💬 Non-alcoholic fatty liver disease × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Non-alcoholic fatty liver disease × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 401. Non-alcoholic fatty liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
402	Non-small cell lung cancer 💬	[2] MAP2K1, MAP2K2 💬 Non-small cell lung cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Non-small cell lung cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 402. Non-small cell lung cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
403	Non-small cell lung cancer 💬	[2] MAP2K1, MAP2K2 💬 Non-small cell lung cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Non-small cell lung cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 403. Non-small cell lung cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
404	Non-small cell lung cancer 💬	[2] MAP2K1, MAP2K2 💬 Non-small cell lung cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Non-small cell lung cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 403. Non-small cell lung cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
405	Non-small cell lung cancer 💬	[1] PIK3CA 💬 Non-small cell lung cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Non-small cell lung cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 405. Non-small cell lung cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
406	Oocyte meiosis 💬	[1] MAP2K1 💬 Oocyte meiosis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Oocyte meiosis × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 406. Oocyte meiosis × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
407	Oocyte meiosis 💬	[1] MAP2K1 💬 Oocyte meiosis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Oocyte meiosis × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 407. Oocyte meiosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
408	Oocyte meiosis 💬	[1] MAP2K1 💬 Oocyte meiosis × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Oocyte meiosis × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 407. Oocyte meiosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
409	Osteoclast differentiation 💬	[1] MAP2K1 💬 Osteoclast differentiation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Osteoclast differentiation × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 409. Osteoclast differentiation × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
410	Osteoclast differentiation 💬	[1] MAP2K1 💬 Osteoclast differentiation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Osteoclast differentiation × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 410. Osteoclast differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
411	Osteoclast differentiation 💬	[1] MAP2K1 💬 Osteoclast differentiation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Osteoclast differentiation × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 410. Osteoclast differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
412	Osteoclast differentiation 💬	[1] PIK3CA 💬 Osteoclast differentiation × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Osteoclast differentiation × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 412. Osteoclast differentiation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
413	Osteoclast differentiation 💬	[1] TNF 💬 Osteoclast differentiation × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Osteoclast differentiation × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 413. Osteoclast differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
414	Oxytocin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Oxytocin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Oxytocin signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 414. Oxytocin signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
415	Oxytocin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Oxytocin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Oxytocin signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 415. Oxytocin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
416	Oxytocin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Oxytocin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Oxytocin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 415. Oxytocin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
417	Pancreatic cancer 💬	[1] MAP2K1 💬 Pancreatic cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Pancreatic cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 417. Pancreatic cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
418	Pancreatic cancer 💬	[1] MAP2K1 💬 Pancreatic cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Pancreatic cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 418. Pancreatic cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
419	Pancreatic cancer 💬	[1] MAP2K1 💬 Pancreatic cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Pancreatic cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 418. Pancreatic cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
420	Pancreatic cancer 💬	[1] MTOR 💬 Pancreatic cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Pancreatic cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 420. Pancreatic cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
421	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 💬 421. 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;
422	Pancreatic cancer 💬	[1] PIK3CA 💬 Pancreatic cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Pancreatic cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 422. Pancreatic cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
423	Pancreatic cancer 💬	[1] VEGFA 💬 Pancreatic cancer × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Pancreatic cancer × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 423. Pancreatic cancer × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
424	Parathyroid hormone synthesis, secretion and action 💬	[1] MAP2K1 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 424. Parathyroid hormone synthesis, secretion and action × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
425	Parathyroid hormone synthesis, secretion and action 💬	[1] MAP2K1 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 425. Parathyroid hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
426	Parathyroid hormone synthesis, secretion and action 💬	[1] MAP2K1 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 425. Parathyroid hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
427	Pathogenic Escherichia coli infection 💬	[1] TNF 💬 Pathogenic Escherichia coli infection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Pathogenic Escherichia coli infection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 427. Pathogenic Escherichia coli infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
428	Pathways in cancer 💬	[2] MAP2K1, MAP2K2 💬 Pathways in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Pathways in cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 428. Pathways in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
429	Pathways in cancer 💬	[2] MAP2K1, MAP2K2 💬 Pathways in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Pathways in cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 429. Pathways in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
430	Pathways in cancer 💬	[2] MAP2K1, MAP2K2 💬 Pathways in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Pathways in cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 429. Pathways in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
431	Pathways in cancer 💬	[1] MTOR 💬 Pathways in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Pathways in cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 431. Pathways in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
432	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 💬 432. 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;
433	Pathways in cancer 💬	[1] PIK3CA 💬 Pathways in cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Pathways in cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 433. Pathways in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
434	Pathways in cancer 💬	[1] VEGFA 💬 Pathways in cancer × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Pathways in cancer × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 434. Pathways in cancer × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
435	Pathways of neurodegeneration - multiple diseases 💬	[2] MAP2K1, MAP2K2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 435. Pathways of neurodegeneration - multiple diseases × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
436	Pathways of neurodegeneration - multiple diseases 💬	[2] MAP2K1, MAP2K2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 436. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
437	Pathways of neurodegeneration - multiple diseases 💬	[2] MAP2K1, MAP2K2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 436. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
438	Pathways of neurodegeneration - multiple diseases 💬	[1] MTOR 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 438. Pathways of neurodegeneration - multiple diseases × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
439	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 💬 439. 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;
440	Pathways of neurodegeneration - multiple diseases 💬	[1] TNF 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 440. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
441	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[2] MAP2K1, MAP2K2 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 441. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
442	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[2] MAP2K1, MAP2K2 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 442. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
443	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[2] MAP2K1, MAP2K2 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 442. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
444	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	Everolimus 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 444. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
445	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 💬 445. 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;
446	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[1] PIK3CA 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 446. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
447	Pertussis 💬	[1] TNF 💬 Pertussis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Pertussis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 447. Pertussis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
448	Phagocytosis 💬	[1] PIK3CA 💬 Phagocytosis × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Phagocytosis × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 448. Phagocytosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
449	Phosphatidylinositol signaling system 💬	[1] PIK3CA 💬 Phosphatidylinositol signaling system × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Phosphatidylinositol signaling system × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 449. Phosphatidylinositol signaling system × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
450	Phospholipase D signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Phospholipase D signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Phospholipase D signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 450. Phospholipase D signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
451	Phospholipase D signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Phospholipase D signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Phospholipase D signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 451. Phospholipase D signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
452	Phospholipase D signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Phospholipase D signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Phospholipase D signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 451. Phospholipase D signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
453	Phospholipase D signaling pathway 💬	[1] MTOR 💬 Phospholipase D signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Phospholipase D signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 453. Phospholipase D signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
454	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 💬 454. 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;
455	Phospholipase D signaling pathway 💬	[1] PIK3CA 💬 Phospholipase D signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Phospholipase D signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 455. Phospholipase D signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
456	PI3K-Akt signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 PI3K-Akt signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 PI3K-Akt signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 456. PI3K-Akt signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
457	PI3K-Akt signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 PI3K-Akt signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 PI3K-Akt signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 457. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
458	PI3K-Akt signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 PI3K-Akt signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 PI3K-Akt signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 457. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
459	PI3K-Akt signaling pathway 💬	[1] MTOR 💬 PI3K-Akt signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 PI3K-Akt signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 459. PI3K-Akt signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
460	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 💬 460. 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;
461	PI3K-Akt signaling pathway 💬	[1] PIK3CA 💬 PI3K-Akt signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 PI3K-Akt signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 461. PI3K-Akt signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
462	PI3K-Akt signaling pathway 💬	[1] VEGFA 💬 PI3K-Akt signaling pathway × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 PI3K-Akt signaling pathway × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 462. PI3K-Akt signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
463	Platelet activation 💬	[1] PIK3CA 💬 Platelet activation × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Platelet activation × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 463. Platelet activation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
464	Prion disease 💬	[1] PIK3CA 💬 Prion disease × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Prion disease × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 464. Prion disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
465	Prion disease 💬	[1] TNF 💬 Prion disease × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Prion disease × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 465. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
466	Progesterone-mediated oocyte maturation 💬	[1] MAP2K1 💬 Progesterone-mediated oocyte maturation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Progesterone-mediated oocyte maturation × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 466. Progesterone-mediated oocyte maturation × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
467	Progesterone-mediated oocyte maturation 💬	[1] MAP2K1 💬 Progesterone-mediated oocyte maturation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Progesterone-mediated oocyte maturation × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 467. Progesterone-mediated oocyte maturation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
468	Progesterone-mediated oocyte maturation 💬	[1] MAP2K1 💬 Progesterone-mediated oocyte maturation × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Progesterone-mediated oocyte maturation × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 467. Progesterone-mediated oocyte maturation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
469	Progesterone-mediated oocyte maturation 💬	[1] PIK3CA 💬 Progesterone-mediated oocyte maturation × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Progesterone-mediated oocyte maturation × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 469. Progesterone-mediated oocyte maturation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
470	Prolactin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Prolactin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Prolactin signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 470. Prolactin signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
471	Prolactin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Prolactin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Prolactin signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 471. Prolactin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
472	Prolactin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Prolactin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Prolactin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 471. Prolactin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
473	Prolactin signaling pathway 💬	[1] PIK3CA 💬 Prolactin signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Prolactin signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 473. Prolactin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
474	Prostate cancer 💬	[2] MAP2K1, MAP2K2 💬 Prostate cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Prostate cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 474. Prostate cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
475	Prostate cancer 💬	[2] MAP2K1, MAP2K2 💬 Prostate cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Prostate cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 475. Prostate cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
476	Prostate cancer 💬	[2] MAP2K1, MAP2K2 💬 Prostate cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Prostate cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 475. Prostate cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
477	Prostate cancer 💬	[1] MTOR 💬 Prostate cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Prostate cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 477. Prostate cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
478	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 💬 478. 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;
479	Prostate cancer 💬	[1] PIK3CA 💬 Prostate cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Prostate cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 479. Prostate cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
480	Proteoglycans in cancer 💬	[2] MAP2K1, MAP2K2 💬 Proteoglycans in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Proteoglycans in cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 480. Proteoglycans in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
481	Proteoglycans in cancer 💬	[2] MAP2K1, MAP2K2 💬 Proteoglycans in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Proteoglycans in cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 481. Proteoglycans in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
482	Proteoglycans in cancer 💬	[2] MAP2K1, MAP2K2 💬 Proteoglycans in cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Proteoglycans in cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 481. Proteoglycans in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
483	Proteoglycans in cancer 💬	[1] MTOR 💬 Proteoglycans in cancer × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Proteoglycans in cancer × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 483. Proteoglycans in cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
484	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 💬 484. 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;
485	Proteoglycans in cancer 💬	[1] PIK3CA 💬 Proteoglycans in cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Proteoglycans in cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 485. Proteoglycans in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
486	Proteoglycans in cancer 💬	[1] TNF 💬 Proteoglycans in cancer × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Proteoglycans in cancer × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 486. Proteoglycans in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
487	Proteoglycans in cancer 💬	[1] VEGFA 💬 Proteoglycans in cancer × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Proteoglycans in cancer × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 487. Proteoglycans in cancer × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
488	Rap1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Rap1 signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Rap1 signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 488. Rap1 signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
489	Rap1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Rap1 signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Rap1 signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 489. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
490	Rap1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Rap1 signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Rap1 signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 489. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
491	Rap1 signaling pathway 💬	[1] PIK3CA 💬 Rap1 signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Rap1 signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 491. Rap1 signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
492	Rap1 signaling pathway 💬	[1] VEGFA 💬 Rap1 signaling pathway × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Rap1 signaling pathway × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 492. Rap1 signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
493	Ras signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Ras signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Ras signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 493. Ras signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
494	Ras signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Ras signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Ras signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 494. Ras signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
495	Ras signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Ras signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Ras signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 494. Ras signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
496	Ras signaling pathway 💬	[1] PIK3CA 💬 Ras signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Ras signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 496. Ras signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
497	Ras signaling pathway 💬	[1] VEGFA 💬 Ras signaling pathway × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Ras signaling pathway × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 497. Ras signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
498	Regulation of actin cytoskeleton 💬	[2] MAP2K1, MAP2K2 💬 Regulation of actin cytoskeleton × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Regulation of actin cytoskeleton × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 498. Regulation of actin cytoskeleton × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
499	Regulation of actin cytoskeleton 💬	[2] MAP2K1, MAP2K2 💬 Regulation of actin cytoskeleton × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Regulation of actin cytoskeleton × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 499. Regulation of actin cytoskeleton × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
500	Regulation of actin cytoskeleton 💬	[2] MAP2K1, MAP2K2 💬 Regulation of actin cytoskeleton × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Regulation of actin cytoskeleton × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 499. Regulation of actin cytoskeleton × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
501	Regulation of actin cytoskeleton 💬	[1] PIK3CA 💬 Regulation of actin cytoskeleton × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Regulation of actin cytoskeleton × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 501. Regulation of actin cytoskeleton × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
502	Regulation of lipolysis in adipocytes 💬	[1] PIK3CA 💬 Regulation of lipolysis in adipocytes × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Regulation of lipolysis in adipocytes × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 502. Regulation of lipolysis in adipocytes × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
503	Relaxin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Relaxin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Relaxin signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 503. Relaxin signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
504	Relaxin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Relaxin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Relaxin signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 504. Relaxin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
505	Relaxin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Relaxin signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Relaxin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 504. Relaxin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
506	Relaxin signaling pathway 💬	[1] PIK3CA 💬 Relaxin signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Relaxin signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 506. Relaxin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
507	Relaxin signaling pathway 💬	[1] VEGFA 💬 Relaxin signaling pathway × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Relaxin signaling pathway × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 507. Relaxin signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
508	Renal cell carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Renal cell carcinoma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Renal cell carcinoma × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 508. Renal cell carcinoma × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
509	Renal cell carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Renal cell carcinoma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Renal cell carcinoma × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 509. Renal cell carcinoma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
510	Renal cell carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Renal cell carcinoma × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Renal cell carcinoma × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 509. Renal cell carcinoma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
511	Renal cell carcinoma 💬	[1] PIK3CA 💬 Renal cell carcinoma × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Renal cell carcinoma × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 511. Renal cell carcinoma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
512	Renal cell carcinoma 💬	[1] VEGFA 💬 Renal cell carcinoma × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Renal cell carcinoma × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 512. Renal cell carcinoma × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
513	Rheumatoid arthritis 💬	[1] TNF 💬 Rheumatoid arthritis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Rheumatoid arthritis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 513. Rheumatoid arthritis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
514	Rheumatoid arthritis 💬	[1] VEGFA 💬 Rheumatoid arthritis × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 Rheumatoid arthritis × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 514. Rheumatoid arthritis × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
515	RIG-I-like receptor signaling pathway 💬	[1] TNF 💬 RIG-I-like receptor signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 RIG-I-like receptor signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 515. RIG-I-like receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
516	Salmonella infection 💬	[2] MAP2K1, MAP2K2 💬 Salmonella infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Salmonella infection × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 516. Salmonella infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
517	Salmonella infection 💬	[2] MAP2K1, MAP2K2 💬 Salmonella infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Salmonella infection × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 517. Salmonella infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
518	Salmonella infection 💬	[2] MAP2K1, MAP2K2 💬 Salmonella infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Salmonella infection × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 517. Salmonella infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
519	Salmonella infection 💬	[1] PIK3CA 💬 Salmonella infection × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Salmonella infection × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 519. Salmonella infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
520	Salmonella infection 💬	[1] TNF 💬 Salmonella infection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Salmonella infection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 520. Salmonella infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
521	Serotonergic synapse 💬	[1] MAP2K1 💬 Serotonergic synapse × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 Serotonergic synapse × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 521. Serotonergic synapse × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
522	Serotonergic synapse 💬	[1] MAP2K1 💬 Serotonergic synapse × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 Serotonergic synapse × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 522. Serotonergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
523	Serotonergic synapse 💬	[1] MAP2K1 💬 Serotonergic synapse × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 Serotonergic synapse × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 522. Serotonergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
524	Shigellosis 💬	[1] MTOR 💬 Shigellosis × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Shigellosis × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 524. Shigellosis × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
525	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 💬 525. 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;
526	Shigellosis 💬	[1] PIK3CA 💬 Shigellosis × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Shigellosis × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 526. Shigellosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
527	Shigellosis 💬	[1] TNF 💬 Shigellosis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Shigellosis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 527. Shigellosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
528	Signaling pathways regulating pluripotency of stem cells 💬	[2] MAP2K1, MAP2K2 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 528. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
529	Signaling pathways regulating pluripotency of stem cells 💬	[2] MAP2K1, MAP2K2 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 529. Signaling pathways regulating pluripotency of stem cells × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
530	Signaling pathways regulating pluripotency of stem cells 💬	[2] MAP2K1, MAP2K2 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 529. Signaling pathways regulating pluripotency of stem cells × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
531	Signaling pathways regulating pluripotency of stem cells 💬	[1] PIK3CA 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 531. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
532	Small cell lung cancer 💬	[1] PIK3CA 💬 Small cell lung cancer × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Small cell lung cancer × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 532. Small cell lung cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
533	Sphingolipid signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Sphingolipid signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Sphingolipid signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 533. Sphingolipid signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
534	Sphingolipid signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Sphingolipid signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Sphingolipid signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 534. Sphingolipid signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
535	Sphingolipid signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Sphingolipid signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Sphingolipid signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 534. Sphingolipid signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
536	Sphingolipid signaling pathway 💬	[1] PIK3CA 💬 Sphingolipid signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Sphingolipid signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 536. Sphingolipid signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
537	Sphingolipid signaling pathway 💬	[1] TNF 💬 Sphingolipid signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Sphingolipid signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 537. Sphingolipid signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
538	Spinocerebellar ataxia 💬	[1] MTOR 💬 Spinocerebellar ataxia × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Spinocerebellar ataxia × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 538. Spinocerebellar ataxia × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
539	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 💬 539. 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;
540	Spinocerebellar ataxia 💬	[1] PIK3CA 💬 Spinocerebellar ataxia × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Spinocerebellar ataxia × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 540. Spinocerebellar ataxia × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
541	Systemic lupus erythematosus 💬	[1] TNF 💬 Systemic lupus erythematosus × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Systemic lupus erythematosus × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 541. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
542	T cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 T cell receptor signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 T cell receptor signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 542. T cell receptor signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
543	T cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 T cell receptor signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 T cell receptor signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 543. T cell receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
544	T cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 T cell receptor signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 T cell receptor signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 543. T cell receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
545	T cell receptor signaling pathway 💬	[1] PIK3CA 💬 T cell receptor signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 T cell receptor signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 545. T cell receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
546	T cell receptor signaling pathway 💬	[1] TNF 💬 T cell receptor signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 T cell receptor signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 546. T cell receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
547	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Lovastatin 💬 Terpenoid backbone biosynthesis × Name Other Names Lovastatin Mevacor	Lovastatin	[11]  6 , 34, 46, 79, 156, 160, 195, 206, 263, 280, 310 💬 547. Terpenoid backbone biosynthesis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 156 Rett syndrome; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Austin syndrome;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 195 Noonan syndrome; 206 Fragile X syndrome; 263 Cerebrotendinous xanthomatosis;CTX;27-hydroxylase deficiency;CYP27 deficiency; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 310 Congenital anomalies syndrome;Partial trisomy 1q syndrome;Chromosome 1q21.1 duplication syndrome;Trisomy 1q;9q34 deletion syndrome;Chromosome 9q34.3 deletion syndrome;Chromosome 9q deletion syndrome;9q subtelomeric deletion syndrome;9q- syndrome;9q34.3 deletion/microdeletion syndrome;Kleefstra syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;
548	TGF-beta signaling pathway 💬	[1] TNF 💬 TGF-beta signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 TGF-beta signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 548. TGF-beta signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
549	Th17 cell differentiation 💬	[1] MTOR 💬 Th17 cell differentiation × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Th17 cell differentiation × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 549. Th17 cell differentiation × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
550	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 💬 550. 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;
551	Thermogenesis 💬	[1] MTOR 💬 Thermogenesis × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Thermogenesis × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 551. Thermogenesis × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
552	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 💬 552. 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;
553	Thyroid cancer 💬	[2] MAP2K1, MAP2K2 💬 Thyroid cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Thyroid cancer × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 553. Thyroid cancer × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
554	Thyroid cancer 💬	[2] MAP2K1, MAP2K2 💬 Thyroid cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Thyroid cancer × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 554. Thyroid cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
555	Thyroid cancer 💬	[2] MAP2K1, MAP2K2 💬 Thyroid cancer × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Thyroid cancer × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 554. Thyroid cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
556	Thyroid hormone signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Thyroid hormone signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Thyroid hormone signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 556. Thyroid hormone signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
557	Thyroid hormone signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Thyroid hormone signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Thyroid hormone signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 557. Thyroid hormone signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
558	Thyroid hormone signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Thyroid hormone signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Thyroid hormone signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 557. Thyroid hormone signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
559	Thyroid hormone signaling pathway 💬	[1] MTOR 💬 Thyroid hormone signaling pathway × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Thyroid hormone signaling pathway × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 559. Thyroid hormone signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
560	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 💬 560. 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;
561	Thyroid hormone signaling pathway 💬	[1] PIK3CA 💬 Thyroid hormone signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Thyroid hormone signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 561. Thyroid hormone signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
562	TNF signaling pathway 💬	[1] MAP2K1 💬 TNF signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Mirdametinib 💬 TNF signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 562. TNF signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
563	TNF signaling pathway 💬	[1] MAP2K1 💬 TNF signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib 💬 TNF signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 563. TNF signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
564	TNF signaling pathway 💬	[1] MAP2K1 💬 TNF signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1	Trametinib dimethyl sulfoxide 💬 TNF signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 563. TNF signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
565	TNF signaling pathway 💬	[1] PIK3CA 💬 TNF signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 TNF signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 565. TNF signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
566	TNF signaling pathway 💬	[1] TNF 💬 TNF signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 TNF signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 566. TNF signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
567	Toll-like receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Toll-like receptor signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Toll-like receptor signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 567. Toll-like receptor signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
568	Toll-like receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Toll-like receptor signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Toll-like receptor signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 568. Toll-like receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
569	Toll-like receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Toll-like receptor signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Toll-like receptor signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 568. Toll-like receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
570	Toll-like receptor signaling pathway 💬	[1] PIK3CA 💬 Toll-like receptor signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Toll-like receptor signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 570. Toll-like receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
571	Toll-like receptor signaling pathway 💬	[1] TNF 💬 Toll-like receptor signaling pathway × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Toll-like receptor signaling pathway × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 571. Toll-like receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
572	Toxoplasmosis 💬	[1] TNF 💬 Toxoplasmosis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Toxoplasmosis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 572. Toxoplasmosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
573	Tuberculosis 💬	[1] TNF 💬 Tuberculosis × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Tuberculosis × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 573. Tuberculosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
574	Type I diabetes mellitus 💬	[1] TNF 💬 Type I diabetes mellitus × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Type I diabetes mellitus × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 574. Type I diabetes mellitus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
575	Type II diabetes mellitus 💬	[1] MTOR 💬 Type II diabetes mellitus × Name Full Name MTOR serine/threonine-protein kinase mTOR isoform 1	Everolimus 💬 Type II diabetes mellitus × Name Other Names Everolimus Afinitor Votubia Zortress TORPENZ YULITHIRA	Everolimus	[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬 575. Type II diabetes mellitus × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 89 Lymphangioleiomyomatosis;LAM; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 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;
576	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 💬 576. 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;
577	Type II diabetes mellitus 💬	[1] PIK3CA 💬 Type II diabetes mellitus × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Type II diabetes mellitus × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 577. Type II diabetes mellitus × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
578	Type II diabetes mellitus 💬	[1] TNF 💬 Type II diabetes mellitus × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Type II diabetes mellitus × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 578. Type II diabetes mellitus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
579	Vascular smooth muscle contraction 💬	[2] MAP2K1, MAP2K2 💬 Vascular smooth muscle contraction × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Vascular smooth muscle contraction × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 579. Vascular smooth muscle contraction × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
580	Vascular smooth muscle contraction 💬	[2] MAP2K1, MAP2K2 💬 Vascular smooth muscle contraction × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Vascular smooth muscle contraction × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 580. Vascular smooth muscle contraction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
581	Vascular smooth muscle contraction 💬	[2] MAP2K1, MAP2K2 💬 Vascular smooth muscle contraction × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Vascular smooth muscle contraction × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 580. Vascular smooth muscle contraction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
582	VEGF signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 VEGF signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 VEGF signaling pathway × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 582. VEGF signaling pathway × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
583	VEGF signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 VEGF signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 VEGF signaling pathway × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 583. VEGF signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
584	VEGF signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 VEGF signaling pathway × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 VEGF signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 583. VEGF signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
585	VEGF signaling pathway 💬	[1] PIK3CA 💬 VEGF signaling pathway × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 VEGF signaling pathway × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 585. VEGF signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
586	VEGF signaling pathway 💬	[1] VEGFA 💬 VEGF signaling pathway × Name Full Name VEGFA vascular endothelial growth factor A, long form isoform b	Bevacizumab 💬 VEGF signaling pathway × Name Other Names Bevacizumab Bevacizumab-awwb Bevacizumab-bvzr Bevacizumab-maly Bevacizumab-adcd Bevacizumab-tnjn Bevacizumab-nwgd Bevacizumab-vikg Avastin Alymsys Lytenava Mvasi Vegzelma Zirabev JOBEVNE	Bevacizumab	[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬 586. VEGF signaling pathway × Disease ID Name 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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; 87 Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH; 89 Lymphangioleiomyomatosis;LAM; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
587	Viral carcinogenesis 💬	[1] PIK3CA 💬 Viral carcinogenesis × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Viral carcinogenesis × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 587. Viral carcinogenesis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
588	Viral protein interaction with cytokine and cytokine receptor 💬	[1] TNF 💬 Viral protein interaction with cytokine and cytokine receptor × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Viral protein interaction with cytokine and cytokine receptor × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 588. Viral protein interaction with cytokine and cytokine receptor × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;
589	Yersinia infection 💬	[2] MAP2K1, MAP2K2 💬 Yersinia infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Mirdametinib 💬 Yersinia infection × Name Other Names Mirdametinib Gomekli Ezmekly	Mirdametinib	[4] 34, 278, 279, 280 💬 589. Yersinia infection × Disease ID Name 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 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;
590	Yersinia infection 💬	[2] MAP2K1, MAP2K2 💬 Yersinia infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib 💬 Yersinia infection × Name Other Names Trametinib Trametinib	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 590. Yersinia infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
591	Yersinia infection 💬	[2] MAP2K1, MAP2K2 💬 Yersinia infection × Name Full Name MAP2K1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1 MAP2K2 dual specificity mitogen-activated protein kinase kinase 2 isoform 1	Trametinib dimethyl sulfoxide 💬 Yersinia infection × Name Other Names Trametinib dimethyl sulfoxide Mekinist Spexotras	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 590. Yersinia infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 58 Hypertrophic cardiomyopathy;HCM; 195 Noonan syndrome; 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;
592	Yersinia infection 💬	[1] PIK3CA 💬 Yersinia infection × Name Full Name PIK3CA phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Alpelisib 💬 Yersinia infection × Name Other Names Alpelisib Piqray Vijoice	Alpelisib	[4] 138, 278, 279, 280 💬 592. Yersinia infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 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;
593	Yersinia infection 💬	[1] TNF 💬 Yersinia infection × Name Full Name TNF tumor necrosis factor	Thalidomide 💬 Yersinia infection × Name Other Names Thalidomide Thalomid Thaled	Thalidomide	[22]  2 , 16, 20, 28, 49, 51, 53, 56, 63, 65, 84, 85, 94, 96, 97, 117, 227, 271, 280, 298, 300, 331 💬 593. Yersinia infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 117 Syringomyelia; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation; 298 Hereditary pancreatitis;Chronic pancreatitis; 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;

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