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 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Acute myeloid leukemia × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Acute myeloid leukemia × Name Other Names Trametinib Trametinib (USAN)	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 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Acute myeloid leukemia × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	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 mechanistic target of rapamycin kinase	Sirolimus 💬 Acute myeloid leukemia × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 4. Acute myeloid leukemia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
5	Acute myeloid leukemia 💬	[1] PIK3CA_B_D 💬 Acute myeloid leukemia × Name Full Name PIK3CA_B_D	Alpelisib 💬 Acute myeloid leukemia × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 5. Acute myeloid leukemia × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
6	Adipocytokine signaling pathway 💬	[1] MTOR 💬 Adipocytokine signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Adipocytokine signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 6. Adipocytokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
7	AGE-RAGE signaling pathway in diabetic complications 💬	[1] PIK3CA_B_D 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name PIK3CA_B_D	Alpelisib 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 7. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Alcoholism 💬	[1] MAP2K1 💬 Alcoholism × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Alcoholism × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 8. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
9	Alcoholism 💬	[1] MAP2K1 💬 Alcoholism × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Alcoholism × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 9. 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;
10	Alcoholism 💬	[1] MAP2K1 💬 Alcoholism × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Alcoholism × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 9. 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;
11	Aldosterone-regulated sodium reabsorption 💬	[1] PIK3CA_B_D 💬 Aldosterone-regulated sodium reabsorption × Name Full Name PIK3CA_B_D	Alpelisib 💬 Aldosterone-regulated sodium reabsorption × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 11. Aldosterone-regulated sodium reabsorption × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Alzheimer disease 💬	[2] MAP2K1, MAP2K2 💬 Alzheimer disease × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Alzheimer disease × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 12. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
13	Alzheimer disease 💬	[2] MAP2K1, MAP2K2 💬 Alzheimer disease × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Alzheimer disease × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 13. 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;
14	Alzheimer disease 💬	[2] MAP2K1, MAP2K2 💬 Alzheimer disease × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Alzheimer disease × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 13. 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;
15	Alzheimer disease 💬	[1] MTOR 💬 Alzheimer disease × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Alzheimer disease × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 15. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
16	Alzheimer disease 💬	[1] PIK3CA_B_D 💬 Alzheimer disease × Name Full Name PIK3CA_B_D	Alpelisib 💬 Alzheimer disease × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 16. Alzheimer disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Amoebiasis 💬	[1] PIK3CA_B_D 💬 Amoebiasis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Amoebiasis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 17. Amoebiasis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	AMPK signaling pathway 💬	[1] MTOR 💬 AMPK signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 AMPK signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 18. AMPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
19	AMPK signaling pathway 💬	[1] PIK3CA_B_D 💬 AMPK signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 AMPK signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 19. AMPK signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
20	Amyotrophic lateral sclerosis 💬	[1] MTOR 💬 Amyotrophic lateral sclerosis × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Amyotrophic lateral sclerosis × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 20. Amyotrophic lateral sclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
21	Apelin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Apelin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Apelin signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 21. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Apelin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Apelin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Apelin signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 22. 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;
23	Apelin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Apelin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Apelin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 22. 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;
24	Apelin signaling pathway 💬	[1] MTOR 💬 Apelin signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Apelin signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 24. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	Apoptosis 💬	[2] MAP2K1, MAP2K2 💬 Apoptosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Apoptosis × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 25. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Apoptosis 💬	[2] MAP2K1, MAP2K2 💬 Apoptosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Apoptosis × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 26. 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;
27	Apoptosis 💬	[2] MAP2K1, MAP2K2 💬 Apoptosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Apoptosis × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 26. 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;
28	Apoptosis 💬	[1] PIK3CA_B_D 💬 Apoptosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Apoptosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 28. Apoptosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
29	Autophagy - animal 💬	[2] MAP2K1, MAP2K2 💬 Autophagy - animal × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Autophagy - animal × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 29. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
30	Autophagy - animal 💬	[2] MAP2K1, MAP2K2 💬 Autophagy - animal × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Autophagy - animal × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 30. 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;
31	Autophagy - animal 💬	[2] MAP2K1, MAP2K2 💬 Autophagy - animal × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Autophagy - animal × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 30. 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;
32	Autophagy - animal 💬	[1] MTOR 💬 Autophagy - animal × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Autophagy - animal × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 32. Autophagy - animal × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
33	Autophagy - animal 💬	[1] PIK3CA_B_D 💬 Autophagy - animal × Name Full Name PIK3CA_B_D	Alpelisib 💬 Autophagy - animal × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 33. Autophagy - animal × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Autophagy - other 💬	[1] MTOR 💬 Autophagy - other × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Autophagy - other × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 34. Autophagy - other × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	Axon guidance 💬	[1] PIK3CA_B_D 💬 Axon guidance × Name Full Name PIK3CA_B_D	Alpelisib 💬 Axon guidance × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 35. Axon guidance × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
36	B cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 B cell receptor signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 B cell receptor signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 36. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
37	B cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 B cell receptor signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 B cell receptor signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 37. 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;
38	B cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 B cell receptor signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 B cell receptor signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 37. 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;
39	B cell receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 B cell receptor signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 B cell receptor signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 39. B cell receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Bacterial invasion of epithelial cells 💬	[1] PIK3CA_B_D 💬 Bacterial invasion of epithelial cells × Name Full Name PIK3CA_B_D	Alpelisib 💬 Bacterial invasion of epithelial cells × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 40. Bacterial invasion of epithelial cells × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Bladder cancer 💬	[2] MAP2K1, MAP2K2 💬 Bladder cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Bladder cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 41. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
42	Bladder cancer 💬	[2] MAP2K1, MAP2K2 💬 Bladder cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Bladder cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 42. 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;
43	Bladder cancer 💬	[2] MAP2K1, MAP2K2 💬 Bladder cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Bladder cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 42. 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;
44	Breast cancer 💬	[2] MAP2K1, MAP2K2 💬 Breast cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Breast cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 44. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Breast cancer 💬	[2] MAP2K1, MAP2K2 💬 Breast cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Breast cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 45. 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;
46	Breast cancer 💬	[2] MAP2K1, MAP2K2 💬 Breast cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Breast cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 45. 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;
47	Breast cancer 💬	[1] MTOR 💬 Breast cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Breast cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 47. Breast cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	Breast cancer 💬	[1] PIK3CA_B_D 💬 Breast cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Breast cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 48. Breast cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	C-type lectin receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 C-type lectin receptor signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 C-type lectin receptor signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 49. C-type lectin receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	cAMP signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cAMP signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 cAMP signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 50. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	cAMP signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cAMP signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 cAMP signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 51. 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;
52	cAMP signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cAMP signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 cAMP signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 51. 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;
53	cAMP signaling pathway 💬	[1] PIK3CA_B_D 💬 cAMP signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 cAMP signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 53. cAMP signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Carbohydrate digestion and absorption 💬	[1] PIK3CA_B_D 💬 Carbohydrate digestion and absorption × Name Full Name PIK3CA_B_D	Alpelisib 💬 Carbohydrate digestion and absorption × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 54. Carbohydrate digestion and absorption × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Cellular senescence 💬	[2] MAP2K1, MAP2K2 💬 Cellular senescence × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Cellular senescence × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 55. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
56	Cellular senescence 💬	[2] MAP2K1, MAP2K2 💬 Cellular senescence × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Cellular senescence × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 56. 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;
57	Cellular senescence 💬	[2] MAP2K1, MAP2K2 💬 Cellular senescence × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Cellular senescence × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 56. 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;
58	Cellular senescence 💬	[1] MTOR 💬 Cellular senescence × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Cellular senescence × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 58. Cellular senescence × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
59	Cellular senescence 💬	[1] PIK3CA_B_D 💬 Cellular senescence × Name Full Name PIK3CA_B_D	Alpelisib 💬 Cellular senescence × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 59. Cellular senescence × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Central carbon metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Central carbon metabolism in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Central carbon metabolism in cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 60. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Central carbon metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Central carbon metabolism in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Central carbon metabolism in cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 61. 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;
62	Central carbon metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Central carbon metabolism in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Central carbon metabolism in cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 61. 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;
63	Central carbon metabolism in cancer 💬	[1] MTOR 💬 Central carbon metabolism in cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Central carbon metabolism in cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 63. Central carbon metabolism in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
64	Central carbon metabolism in cancer 💬	[1] PIK3CA_B_D 💬 Central carbon metabolism in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Central carbon metabolism in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 64. Central carbon metabolism in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	cGMP-PKG signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cGMP-PKG signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 cGMP-PKG signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 65. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	cGMP-PKG signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cGMP-PKG signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 cGMP-PKG signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 66. 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;
67	cGMP-PKG signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 cGMP-PKG signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 cGMP-PKG signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 66. 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;
68	Chagas disease 💬	[1] ACE 💬 Chagas disease × Name Full Name ACE angiotensin I converting enzyme	Enalapril maleate 💬 Chagas disease × Name Other Names Enalapril maleate Enalapril maleate (JP18/USP) Renivace (TN) Vasotec (TN) ENALAPRIL MALEATE EPANED VASOTEC ENALAPRIL MALEATE ORAL SOLUTION	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 68. Chagas disease × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
69	Chagas disease 💬	[1] ACE 💬 Chagas disease × Name Full Name ACE angiotensin I converting enzyme	Enalapril 💬 Chagas disease × Name Other Names Enalapril Enalapril (INN) Enalapril (TN)	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 68. Chagas disease × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
70	Chagas disease 💬	[1] PIK3CA_B_D 💬 Chagas disease × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chagas disease × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 70. Chagas disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Chemical carcinogenesis - reactive oxygen species 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 71. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
72	Chemical carcinogenesis - reactive oxygen species 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 72. 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;
73	Chemical carcinogenesis - reactive oxygen species 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 72. 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;
74	Chemical carcinogenesis - reactive oxygen species 💬	[1] PIK3CA_B_D 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 74. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
75	Chemical carcinogenesis - receptor activation 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - receptor activation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 75. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Chemical carcinogenesis - receptor activation 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - receptor activation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 76. 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;
77	Chemical carcinogenesis - receptor activation 💬	[2] MAP2K1, MAP2K2 💬 Chemical carcinogenesis - receptor activation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Chemical carcinogenesis - receptor activation × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 76. 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;
78	Chemical carcinogenesis - receptor activation 💬	[1] MTOR 💬 Chemical carcinogenesis - receptor activation × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Chemical carcinogenesis - receptor activation × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 78. Chemical carcinogenesis - receptor activation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
79	Chemical carcinogenesis - receptor activation 💬	[1] PIK3CA_B_D 💬 Chemical carcinogenesis - receptor activation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 79. Chemical carcinogenesis - receptor activation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Chemokine signaling pathway 💬	[1] MAP2K1 💬 Chemokine signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Chemokine signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 80. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Chemokine signaling pathway 💬	[1] MAP2K1 💬 Chemokine signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Chemokine signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 81. 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;
82	Chemokine signaling pathway 💬	[1] MAP2K1 💬 Chemokine signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Chemokine signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 81. 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;
83	Chemokine signaling pathway 💬	[1] PIK3CA_B_D 💬 Chemokine signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chemokine signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 83. Chemokine signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Choline metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Choline metabolism in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Choline metabolism in cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 84. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Choline metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Choline metabolism in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Choline metabolism in cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 85. 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;
86	Choline metabolism in cancer 💬	[2] MAP2K1, MAP2K2 💬 Choline metabolism in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Choline metabolism in cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 85. 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;
87	Choline metabolism in cancer 💬	[1] MTOR 💬 Choline metabolism in cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Choline metabolism in cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 87. Choline metabolism in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
88	Choline metabolism in cancer 💬	[1] PIK3CA_B_D 💬 Choline metabolism in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Choline metabolism in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 88. Choline metabolism in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
89	Cholinergic synapse 💬	[1] MAP2K1 💬 Cholinergic synapse × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Cholinergic synapse × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 89. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Cholinergic synapse 💬	[1] MAP2K1 💬 Cholinergic synapse × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Cholinergic synapse × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 90. 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;
91	Cholinergic synapse 💬	[1] MAP2K1 💬 Cholinergic synapse × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Cholinergic synapse × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 90. 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;
92	Cholinergic synapse 💬	[1] PIK3CA_B_D 💬 Cholinergic synapse × Name Full Name PIK3CA_B_D	Alpelisib 💬 Cholinergic synapse × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 92. Cholinergic synapse × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Chronic myeloid leukemia 💬	[2] MAP2K1, MAP2K2 💬 Chronic myeloid leukemia × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Chronic myeloid leukemia × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 93. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Chronic myeloid leukemia 💬	[2] MAP2K1, MAP2K2 💬 Chronic myeloid leukemia × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Chronic myeloid leukemia × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 94. 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;
95	Chronic myeloid leukemia 💬	[2] MAP2K1, MAP2K2 💬 Chronic myeloid leukemia × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Chronic myeloid leukemia × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 94. 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;
96	Chronic myeloid leukemia 💬	[1] PIK3CA_B_D 💬 Chronic myeloid leukemia × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chronic myeloid leukemia × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 96. Chronic myeloid leukemia × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
97	Colorectal cancer 💬	[2] MAP2K1, MAP2K2 💬 Colorectal cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Colorectal cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 97. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
98	Colorectal cancer 💬	[2] MAP2K1, MAP2K2 💬 Colorectal cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Colorectal cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 98. 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;
99	Colorectal cancer 💬	[2] MAP2K1, MAP2K2 💬 Colorectal cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Colorectal cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 98. 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;
100	Colorectal cancer 💬	[1] MTOR 💬 Colorectal cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Colorectal cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 100. Colorectal cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
101	Colorectal cancer 💬	[1] PIK3CA_B_D 💬 Colorectal cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Colorectal cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 101. Colorectal cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Complement and coagulation cascades 💬	[1] F10 💬 Complement and coagulation cascades × Name Full Name F10 coagulation factor X	Apixaban 💬 Complement and coagulation cascades × Name Other Names Apixaban Apixaban (JAN/USAN/INN) Eliquis (TN) ELIQUIS APIXABAN	Apixaban	[4] 96, 97, 222, 279 💬 102. Complement and coagulation cascades × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
103	Coronavirus disease - COVID-19 💬	[1] ACE 💬 Coronavirus disease - COVID-19 × Name Full Name ACE angiotensin I converting enzyme	Enalapril maleate 💬 Coronavirus disease - COVID-19 × Name Other Names Enalapril maleate Enalapril maleate (JP18/USP) Renivace (TN) Vasotec (TN) ENALAPRIL MALEATE EPANED VASOTEC ENALAPRIL MALEATE ORAL SOLUTION	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 103. Coronavirus disease - COVID-19 × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
104	Coronavirus disease - COVID-19 💬	[1] ACE 💬 Coronavirus disease - COVID-19 × Name Full Name ACE angiotensin I converting enzyme	Enalapril 💬 Coronavirus disease - COVID-19 × Name Other Names Enalapril Enalapril (INN) Enalapril (TN)	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 103. Coronavirus disease - COVID-19 × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
105	Coronavirus disease - COVID-19 💬	[1] PIK3CA_B_D 💬 Coronavirus disease - COVID-19 × Name Full Name PIK3CA_B_D	Alpelisib 💬 Coronavirus disease - COVID-19 × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 105. Coronavirus disease - COVID-19 × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Cushing syndrome 💬	[2] MAP2K1, MAP2K2 💬 Cushing syndrome × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Cushing syndrome × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 106. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Cushing syndrome 💬	[2] MAP2K1, MAP2K2 💬 Cushing syndrome × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Cushing syndrome × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 107. 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;
108	Cushing syndrome 💬	[2] MAP2K1, MAP2K2 💬 Cushing syndrome × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Cushing syndrome × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 107. 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;
109	Diabetic cardiomyopathy 💬	[1] ACE 💬 Diabetic cardiomyopathy × Name Full Name ACE angiotensin I converting enzyme	Enalapril maleate 💬 Diabetic cardiomyopathy × Name Other Names Enalapril maleate Enalapril maleate (JP18/USP) Renivace (TN) Vasotec (TN) ENALAPRIL MALEATE EPANED VASOTEC ENALAPRIL MALEATE ORAL SOLUTION	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 109. Diabetic cardiomyopathy × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
110	Diabetic cardiomyopathy 💬	[1] ACE 💬 Diabetic cardiomyopathy × Name Full Name ACE angiotensin I converting enzyme	Enalapril 💬 Diabetic cardiomyopathy × Name Other Names Enalapril Enalapril (INN) Enalapril (TN)	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 109. Diabetic cardiomyopathy × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
111	Diabetic cardiomyopathy 💬	[1] MTOR 💬 Diabetic cardiomyopathy × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Diabetic cardiomyopathy × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 111. Diabetic cardiomyopathy × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
112	Diabetic cardiomyopathy 💬	[1] PIK3CA_B_D 💬 Diabetic cardiomyopathy × Name Full Name PIK3CA_B_D	Alpelisib 💬 Diabetic cardiomyopathy × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 112. Diabetic cardiomyopathy × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
113	Efferocytosis 💬	[2] MAP2K1, MAP2K2 💬 Efferocytosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Efferocytosis × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 113. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Efferocytosis 💬	[2] MAP2K1, MAP2K2 💬 Efferocytosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Efferocytosis × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 114. 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;
115	Efferocytosis 💬	[2] MAP2K1, MAP2K2 💬 Efferocytosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Efferocytosis × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 114. 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;
116	Endometrial cancer 💬	[2] MAP2K1, MAP2K2 💬 Endometrial cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Endometrial cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 116. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Endometrial cancer 💬	[2] MAP2K1, MAP2K2 💬 Endometrial cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Endometrial cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 117. 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;
118	Endometrial cancer 💬	[2] MAP2K1, MAP2K2 💬 Endometrial cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Endometrial cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 117. 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;
119	Endometrial cancer 💬	[1] PIK3CA_B_D 💬 Endometrial cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Endometrial cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 119. Endometrial cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Epstein-Barr virus infection 💬	[1] PIK3CA_B_D 💬 Epstein-Barr virus infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Epstein-Barr virus infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 120. Epstein-Barr virus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	ErbB signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 ErbB signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 ErbB signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 121. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	ErbB signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 ErbB signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 ErbB signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 122. 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;
123	ErbB signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 ErbB signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 ErbB signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 122. 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;
124	ErbB signaling pathway 💬	[1] MTOR 💬 ErbB signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 ErbB signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 124. ErbB signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
125	ErbB signaling pathway 💬	[1] PIK3CA_B_D 💬 ErbB signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 ErbB signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 125. ErbB signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Estrogen signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Estrogen signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Estrogen signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 126. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Estrogen signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Estrogen signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Estrogen signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 127. 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;
128	Estrogen signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Estrogen signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Estrogen signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 127. 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;
129	Estrogen signaling pathway 💬	[1] PIK3CA_B_D 💬 Estrogen signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Estrogen signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 129. Estrogen signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Fc epsilon RI signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Fc epsilon RI signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Fc epsilon RI signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 130. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Fc epsilon RI signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Fc epsilon RI signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Fc epsilon RI signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 131. 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;
132	Fc epsilon RI signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Fc epsilon RI signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Fc epsilon RI signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 131. 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;
133	Fc epsilon RI signaling pathway 💬	[1] PIK3CA_B_D 💬 Fc epsilon RI signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Fc epsilon RI signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 133. Fc epsilon RI signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Fc gamma R-mediated phagocytosis 💬	[1] MAP2K1 💬 Fc gamma R-mediated phagocytosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Fc gamma R-mediated phagocytosis × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 134. Fc gamma R-mediated phagocytosis × 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Fc gamma R-mediated phagocytosis 💬	[1] MAP2K1 💬 Fc gamma R-mediated phagocytosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Fc gamma R-mediated phagocytosis × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 135. Fc gamma R-mediated phagocytosis × 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	Fc gamma R-mediated phagocytosis 💬	[1] MAP2K1 💬 Fc gamma R-mediated phagocytosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Fc gamma R-mediated phagocytosis × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 135. Fc gamma R-mediated phagocytosis × 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;
137	Fc gamma R-mediated phagocytosis 💬	[1] PIK3CA_B_D 💬 Fc gamma R-mediated phagocytosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Fc gamma R-mediated phagocytosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 137. Fc gamma R-mediated phagocytosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
138	Fluid shear stress and atherosclerosis 💬	[1] PIK3CA_B_D 💬 Fluid shear stress and atherosclerosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Fluid shear stress and atherosclerosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 138. Fluid shear stress and atherosclerosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Focal adhesion 💬	[1] MAP2K1 💬 Focal adhesion × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Focal adhesion × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 139. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
140	Focal adhesion 💬	[1] MAP2K1 💬 Focal adhesion × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Focal adhesion × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 140. 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;
141	Focal adhesion 💬	[1] MAP2K1 💬 Focal adhesion × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Focal adhesion × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 140. 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;
142	Focal adhesion 💬	[1] PIK3CA_B_D 💬 Focal adhesion × Name Full Name PIK3CA_B_D	Alpelisib 💬 Focal adhesion × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 142. Focal adhesion × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
143	FoxO signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 FoxO signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 FoxO signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 143. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	FoxO signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 FoxO signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 FoxO signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 144. 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;
145	FoxO signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 FoxO signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 FoxO signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 144. 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;
146	FoxO signaling pathway 💬	[1] PIK3CA_B_D 💬 FoxO signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 FoxO signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 146. FoxO signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
147	Gap junction 💬	[2] MAP2K1, MAP2K2 💬 Gap junction × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Gap junction × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 147. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Gap junction 💬	[2] MAP2K1, MAP2K2 💬 Gap junction × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Gap junction × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 148. 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;
149	Gap junction 💬	[2] MAP2K1, MAP2K2 💬 Gap junction × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Gap junction × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 148. 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;
150	Gastric cancer 💬	[2] MAP2K1, MAP2K2 💬 Gastric cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Gastric cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 150. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
151	Gastric cancer 💬	[2] MAP2K1, MAP2K2 💬 Gastric cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Gastric cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 151. 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;
152	Gastric cancer 💬	[2] MAP2K1, MAP2K2 💬 Gastric cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Gastric cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 151. 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;
153	Gastric cancer 💬	[1] MTOR 💬 Gastric cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Gastric cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 153. Gastric cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
154	Gastric cancer 💬	[1] PIK3CA_B_D 💬 Gastric cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Gastric cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 154. Gastric cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Glioma 💬	[2] MAP2K1, MAP2K2 💬 Glioma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Glioma × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 155. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Glioma 💬	[2] MAP2K1, MAP2K2 💬 Glioma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Glioma × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 156. 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;
157	Glioma 💬	[2] MAP2K1, MAP2K2 💬 Glioma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Glioma × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 156. 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;
158	Glioma 💬	[1] MTOR 💬 Glioma × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Glioma × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 158. Glioma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
159	Glioma 💬	[1] PIK3CA_B_D 💬 Glioma × Name Full Name PIK3CA_B_D	Alpelisib 💬 Glioma × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 159. Glioma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
160	GnRH secretion 💬	[2] MAP2K1, MAP2K2 💬 GnRH secretion × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 GnRH secretion × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 160. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	GnRH secretion 💬	[2] MAP2K1, MAP2K2 💬 GnRH secretion × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 GnRH secretion × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 161. 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;
162	GnRH secretion 💬	[2] MAP2K1, MAP2K2 💬 GnRH secretion × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 GnRH secretion × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 161. 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;
163	GnRH secretion 💬	[1] PIK3CA_B_D 💬 GnRH secretion × Name Full Name PIK3CA_B_D	Alpelisib 💬 GnRH secretion × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 163. GnRH secretion × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	GnRH signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 GnRH signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 GnRH signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 164. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
165	GnRH signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 GnRH signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 GnRH signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 165. 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;
166	GnRH signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 GnRH signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 GnRH signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 165. 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;
167	Growth hormone synthesis, secretion and action 💬	[2] MAP2K1, MAP2K2 💬 Growth hormone synthesis, secretion and action × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Growth hormone synthesis, secretion and action × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 167. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Growth hormone synthesis, secretion and action 💬	[2] MAP2K1, MAP2K2 💬 Growth hormone synthesis, secretion and action × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Growth hormone synthesis, secretion and action × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 168. 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;
169	Growth hormone synthesis, secretion and action 💬	[2] MAP2K1, MAP2K2 💬 Growth hormone synthesis, secretion and action × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Growth hormone synthesis, secretion and action × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 168. 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;
170	Growth hormone synthesis, secretion and action 💬	[1] MTOR 💬 Growth hormone synthesis, secretion and action × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Growth hormone synthesis, secretion and action × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 170. Growth hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
171	Growth hormone synthesis, secretion and action 💬	[1] PIK3CA_B_D 💬 Growth hormone synthesis, secretion and action × Name Full Name PIK3CA_B_D	Alpelisib 💬 Growth hormone synthesis, secretion and action × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 171. Growth hormone synthesis, secretion and action × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Hepatitis B 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis B × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Hepatitis B × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 172. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Hepatitis B 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis B × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Hepatitis B × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 173. 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;
174	Hepatitis B 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis B × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Hepatitis B × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 173. 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;
175	Hepatitis B 💬	[1] PIK3CA_B_D 💬 Hepatitis B × Name Full Name PIK3CA_B_D	Alpelisib 💬 Hepatitis B × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 175. Hepatitis B × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Hepatitis C 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis C × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Hepatitis C × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 176. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
177	Hepatitis C 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis C × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Hepatitis C × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 177. 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;
178	Hepatitis C 💬	[2] MAP2K1, MAP2K2 💬 Hepatitis C × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Hepatitis C × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 177. 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;
179	Hepatitis C 💬	[1] PIK3CA_B_D 💬 Hepatitis C × Name Full Name PIK3CA_B_D	Alpelisib 💬 Hepatitis C × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 179. Hepatitis C × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Hepatocellular carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Hepatocellular carcinoma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Hepatocellular carcinoma × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 180. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Hepatocellular carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Hepatocellular carcinoma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Hepatocellular carcinoma × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 181. 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;
182	Hepatocellular carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Hepatocellular carcinoma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Hepatocellular carcinoma × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 181. 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;
183	Hepatocellular carcinoma 💬	[1] MTOR 💬 Hepatocellular carcinoma × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Hepatocellular carcinoma × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 183. Hepatocellular carcinoma × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
184	Hepatocellular carcinoma 💬	[1] PIK3CA_B_D 💬 Hepatocellular carcinoma × Name Full Name PIK3CA_B_D	Alpelisib 💬 Hepatocellular carcinoma × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 184. Hepatocellular carcinoma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Herpes simplex virus 1 infection 💬	[1] MTOR 💬 Herpes simplex virus 1 infection × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Herpes simplex virus 1 infection × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 185. Herpes simplex virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
186	Herpes simplex virus 1 infection 💬	[1] PIK3CA_B_D 💬 Herpes simplex virus 1 infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Herpes simplex virus 1 infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 186. Herpes simplex virus 1 infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	HIF-1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 HIF-1 signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 HIF-1 signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 187. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	HIF-1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 HIF-1 signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 HIF-1 signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 188. 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;
189	HIF-1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 HIF-1 signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 HIF-1 signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 188. 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;
190	HIF-1 signaling pathway 💬	[1] MTOR 💬 HIF-1 signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 HIF-1 signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 190. HIF-1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
191	HIF-1 signaling pathway 💬	[1] PIK3CA_B_D 💬 HIF-1 signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 HIF-1 signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 191. HIF-1 signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Hormone signaling 💬	[1] PIK3CA_B_D 💬 Hormone signaling × Name Full Name PIK3CA_B_D	Alpelisib 💬 Hormone signaling × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 192. Hormone signaling × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Human cytomegalovirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human cytomegalovirus infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Human cytomegalovirus infection × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 193. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Human cytomegalovirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human cytomegalovirus infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Human cytomegalovirus infection × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 194. 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;
195	Human cytomegalovirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human cytomegalovirus infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Human cytomegalovirus infection × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 194. 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;
196	Human cytomegalovirus infection 💬	[1] MTOR 💬 Human cytomegalovirus infection × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Human cytomegalovirus infection × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 196. Human cytomegalovirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
197	Human cytomegalovirus infection 💬	[1] PIK3CA_B_D 💬 Human cytomegalovirus infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Human cytomegalovirus infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 197. Human cytomegalovirus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Human immunodeficiency virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human immunodeficiency virus 1 infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Human immunodeficiency virus 1 infection × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 198. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Human immunodeficiency virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human immunodeficiency virus 1 infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Human immunodeficiency virus 1 infection × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 199. 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;
200	Human immunodeficiency virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human immunodeficiency virus 1 infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Human immunodeficiency virus 1 infection × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 199. 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;
201	Human immunodeficiency virus 1 infection 💬	[1] MTOR 💬 Human immunodeficiency virus 1 infection × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Human immunodeficiency virus 1 infection × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 201. Human immunodeficiency virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
202	Human immunodeficiency virus 1 infection 💬	[1] PIK3CA_B_D 💬 Human immunodeficiency virus 1 infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Human immunodeficiency virus 1 infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 202. Human immunodeficiency virus 1 infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Human papillomavirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human papillomavirus infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Human papillomavirus infection × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 203. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Human papillomavirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human papillomavirus infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Human papillomavirus infection × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 204. 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;
205	Human papillomavirus infection 💬	[2] MAP2K1, MAP2K2 💬 Human papillomavirus infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Human papillomavirus infection × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 204. 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;
206	Human papillomavirus infection 💬	[1] MTOR 💬 Human papillomavirus infection × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Human papillomavirus infection × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 206. Human papillomavirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	Human papillomavirus infection 💬	[1] PIK3CA_B_D 💬 Human papillomavirus infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Human papillomavirus infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 207. Human papillomavirus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Human T-cell leukemia virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human T-cell leukemia virus 1 infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 208. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Human T-cell leukemia virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human T-cell leukemia virus 1 infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 209. 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;
210	Human T-cell leukemia virus 1 infection 💬	[2] MAP2K1, MAP2K2 💬 Human T-cell leukemia virus 1 infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Human T-cell leukemia virus 1 infection × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 209. 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;
211	Human T-cell leukemia virus 1 infection 💬	[1] PIK3CA_B_D 💬 Human T-cell leukemia virus 1 infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 211. Human T-cell leukemia virus 1 infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Huntington disease 💬	[1] MTOR 💬 Huntington disease × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Huntington disease × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 212. Huntington disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
213	Hypertrophic cardiomyopathy 💬	[1] ACE 💬 Hypertrophic cardiomyopathy × Name Full Name ACE angiotensin I converting enzyme	Enalapril maleate 💬 Hypertrophic cardiomyopathy × Name Other Names Enalapril maleate Enalapril maleate (JP18/USP) Renivace (TN) Vasotec (TN) ENALAPRIL MALEATE EPANED VASOTEC ENALAPRIL MALEATE ORAL SOLUTION	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 213. Hypertrophic cardiomyopathy × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
214	Hypertrophic cardiomyopathy 💬	[1] ACE 💬 Hypertrophic cardiomyopathy × Name Full Name ACE angiotensin I converting enzyme	Enalapril 💬 Hypertrophic cardiomyopathy × Name Other Names Enalapril Enalapril (INN) Enalapril (TN)	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 213. Hypertrophic cardiomyopathy × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
215	Inflammatory mediator regulation of TRP channels 💬	[1] PIK3CA_B_D 💬 Inflammatory mediator regulation of TRP channels × Name Full Name PIK3CA_B_D	Alpelisib 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 215. Inflammatory mediator regulation of TRP channels × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
216	Influenza A 💬	[2] MAP2K1, MAP2K2 💬 Influenza A × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Influenza A × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 216. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Influenza A 💬	[2] MAP2K1, MAP2K2 💬 Influenza A × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Influenza A × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 217. 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;
218	Influenza A 💬	[2] MAP2K1, MAP2K2 💬 Influenza A × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Influenza A × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 217. 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;
219	Influenza A 💬	[1] PIK3CA_B_D 💬 Influenza A × Name Full Name PIK3CA_B_D	Alpelisib 💬 Influenza A × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 219. Influenza A × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Inositol phosphate metabolism 💬	[1] PIK3CA_B_D 💬 Inositol phosphate metabolism × Name Full Name PIK3CA_B_D	Alpelisib 💬 Inositol phosphate metabolism × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 220. Inositol phosphate metabolism × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
221	Insulin resistance 💬	[1] MTOR 💬 Insulin resistance × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Insulin resistance × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 221. Insulin resistance × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
222	Insulin resistance 💬	[1] PIK3CA_B_D 💬 Insulin resistance × Name Full Name PIK3CA_B_D	Alpelisib 💬 Insulin resistance × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 222. Insulin resistance × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
223	Insulin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Insulin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Insulin signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 223. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Insulin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Insulin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Insulin signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 224. 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;
225	Insulin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Insulin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Insulin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 224. 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;
226	Insulin signaling pathway 💬	[1] MTOR 💬 Insulin signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Insulin signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 226. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
227	Insulin signaling pathway 💬	[1] PIK3CA_B_D 💬 Insulin signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Insulin signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 227. Insulin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
228	JAK-STAT signaling pathway 💬	[1] MTOR 💬 JAK-STAT signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 JAK-STAT signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 228. JAK-STAT signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
229	JAK-STAT signaling pathway 💬	[1] PIK3CA_B_D 💬 JAK-STAT signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 JAK-STAT signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 229. JAK-STAT signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Kaposi sarcoma-associated herpesvirus infection 💬	[2] MAP2K1, MAP2K2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 230. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Kaposi sarcoma-associated herpesvirus infection 💬	[2] MAP2K1, MAP2K2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 231. 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;
232	Kaposi sarcoma-associated herpesvirus infection 💬	[2] MAP2K1, MAP2K2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 231. 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;
233	Kaposi sarcoma-associated herpesvirus infection 💬	[1] MTOR 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 233. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
234	Kaposi sarcoma-associated herpesvirus infection 💬	[1] PIK3CA_B_D 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 234. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Leukocyte transendothelial migration 💬	[1] PIK3CA_B_D 💬 Leukocyte transendothelial migration × Name Full Name PIK3CA_B_D	Alpelisib 💬 Leukocyte transendothelial migration × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 235. Leukocyte transendothelial migration × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Lipid and atherosclerosis 💬	[1] PIK3CA_B_D 💬 Lipid and atherosclerosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Lipid and atherosclerosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 236. Lipid and atherosclerosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Long-term depression 💬	[2] MAP2K1, MAP2K2 💬 Long-term depression × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Long-term depression × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 237. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
238	Long-term depression 💬	[2] MAP2K1, MAP2K2 💬 Long-term depression × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Long-term depression × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 238. 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;
239	Long-term depression 💬	[2] MAP2K1, MAP2K2 💬 Long-term depression × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Long-term depression × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 238. 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;
240	Long-term potentiation 💬	[2] MAP2K1, MAP2K2 💬 Long-term potentiation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Long-term potentiation × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 240. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
241	Long-term potentiation 💬	[2] MAP2K1, MAP2K2 💬 Long-term potentiation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Long-term potentiation × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 241. 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;
242	Long-term potentiation 💬	[2] MAP2K1, MAP2K2 💬 Long-term potentiation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Long-term potentiation × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 241. 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;
243	Longevity regulating pathway 💬	[1] MTOR 💬 Longevity regulating pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Longevity regulating pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 243. Longevity regulating pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
244	Longevity regulating pathway 💬	[1] PIK3CA_B_D 💬 Longevity regulating pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Longevity regulating pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 244. Longevity regulating pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Longevity regulating pathway - multiple species 💬	[1] MTOR 💬 Longevity regulating pathway - multiple species × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Longevity regulating pathway - multiple species × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 245. Longevity regulating pathway - multiple species × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
246	Longevity regulating pathway - multiple species 💬	[1] PIK3CA_B_D 💬 Longevity regulating pathway - multiple species × Name Full Name PIK3CA_B_D	Alpelisib 💬 Longevity regulating pathway - multiple species × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 246. Longevity regulating pathway - multiple species × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	MAPK signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 MAPK signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 MAPK signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 247. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
248	MAPK signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 MAPK signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 MAPK signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 248. 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;
249	MAPK signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 MAPK signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 MAPK signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 248. 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;
250	Measles 💬	[1] PIK3CA_B_D 💬 Measles × Name Full Name PIK3CA_B_D	Alpelisib 💬 Measles × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 250. Measles × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
251	Melanogenesis 💬	[2] MAP2K1, MAP2K2 💬 Melanogenesis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Melanogenesis × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 251. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
252	Melanogenesis 💬	[2] MAP2K1, MAP2K2 💬 Melanogenesis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Melanogenesis × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 252. 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;
253	Melanogenesis 💬	[2] MAP2K1, MAP2K2 💬 Melanogenesis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Melanogenesis × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 252. 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;
254	Melanoma 💬	[2] MAP2K1, MAP2K2 💬 Melanoma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Melanoma × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 254. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Melanoma 💬	[2] MAP2K1, MAP2K2 💬 Melanoma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Melanoma × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 255. 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;
256	Melanoma 💬	[2] MAP2K1, MAP2K2 💬 Melanoma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Melanoma × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 255. 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;
257	Melanoma 💬	[1] PIK3CA_B_D 💬 Melanoma × Name Full Name PIK3CA_B_D	Alpelisib 💬 Melanoma × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 257. Melanoma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	MicroRNAs in cancer 💬	[2] MAP2K1, MAP2K2 💬 MicroRNAs in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 MicroRNAs in cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 258. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	MicroRNAs in cancer 💬	[2] MAP2K1, MAP2K2 💬 MicroRNAs in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 MicroRNAs in cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 259. 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;
260	MicroRNAs in cancer 💬	[2] MAP2K1, MAP2K2 💬 MicroRNAs in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 MicroRNAs in cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 259. 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;
261	MicroRNAs in cancer 💬	[1] MTOR 💬 MicroRNAs in cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 MicroRNAs in cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 261. MicroRNAs in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	MicroRNAs in cancer 💬	[1] PIK3CA_B_D 💬 MicroRNAs in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 MicroRNAs in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 262. MicroRNAs in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
263	mTOR signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 mTOR signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 mTOR signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 263. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	mTOR signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 mTOR signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 mTOR signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 264. 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;
265	mTOR signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 mTOR signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 mTOR signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 264. 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;
266	mTOR signaling pathway 💬	[1] MTOR 💬 mTOR signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 mTOR signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 266. mTOR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
267	mTOR signaling pathway 💬	[1] PIK3CA_B_D 💬 mTOR signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 mTOR signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 267. mTOR signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
268	Natural killer cell mediated cytotoxicity 💬	[2] MAP2K1, MAP2K2 💬 Natural killer cell mediated cytotoxicity × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 268. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Natural killer cell mediated cytotoxicity 💬	[2] MAP2K1, MAP2K2 💬 Natural killer cell mediated cytotoxicity × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 269. 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;
270	Natural killer cell mediated cytotoxicity 💬	[2] MAP2K1, MAP2K2 💬 Natural killer cell mediated cytotoxicity × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Natural killer cell mediated cytotoxicity × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 269. 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;
271	Natural killer cell mediated cytotoxicity 💬	[1] PIK3CA_B_D 💬 Natural killer cell mediated cytotoxicity × Name Full Name PIK3CA_B_D	Alpelisib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 271. Natural killer cell mediated cytotoxicity × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Neurotrophin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Neurotrophin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Neurotrophin signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 272. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Neurotrophin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Neurotrophin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Neurotrophin signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 273. 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;
274	Neurotrophin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Neurotrophin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Neurotrophin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 273. 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;
275	Neurotrophin signaling pathway 💬	[1] PIK3CA_B_D 💬 Neurotrophin signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Neurotrophin signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 275. Neurotrophin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Neutrophil extracellular trap formation 💬	[2] MAP2K1, MAP2K2 💬 Neutrophil extracellular trap formation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Neutrophil extracellular trap formation × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 276. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
277	Neutrophil extracellular trap formation 💬	[2] MAP2K1, MAP2K2 💬 Neutrophil extracellular trap formation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Neutrophil extracellular trap formation × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 277. 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;
278	Neutrophil extracellular trap formation 💬	[2] MAP2K1, MAP2K2 💬 Neutrophil extracellular trap formation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Neutrophil extracellular trap formation × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 277. 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;
279	Neutrophil extracellular trap formation 💬	[1] MTOR 💬 Neutrophil extracellular trap formation × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Neutrophil extracellular trap formation × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 279. Neutrophil extracellular trap formation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
280	Neutrophil extracellular trap formation 💬	[1] PIK3CA_B_D 💬 Neutrophil extracellular trap formation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Neutrophil extracellular trap formation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 280. Neutrophil extracellular trap formation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Non-alcoholic fatty liver disease 💬	[1] PIK3CA_B_D 💬 Non-alcoholic fatty liver disease × Name Full Name PIK3CA_B_D	Alpelisib 💬 Non-alcoholic fatty liver disease × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 281. Non-alcoholic fatty liver disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Non-small cell lung cancer 💬	[2] MAP2K1, MAP2K2 💬 Non-small cell lung cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Non-small cell lung cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 282. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
283	Non-small cell lung cancer 💬	[2] MAP2K1, MAP2K2 💬 Non-small cell lung cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Non-small cell lung cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 283. 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;
284	Non-small cell lung cancer 💬	[2] MAP2K1, MAP2K2 💬 Non-small cell lung cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Non-small cell lung cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 283. 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;
285	Non-small cell lung cancer 💬	[1] PIK3CA_B_D 💬 Non-small cell lung cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Non-small cell lung cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 285. Non-small cell lung cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
286	Oocyte meiosis 💬	[1] MAP2K1 💬 Oocyte meiosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Oocyte meiosis × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 286. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Oocyte meiosis 💬	[1] MAP2K1 💬 Oocyte meiosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Oocyte meiosis × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 287. 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;
288	Oocyte meiosis 💬	[1] MAP2K1 💬 Oocyte meiosis × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Oocyte meiosis × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 287. 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;
289	Osteoclast differentiation 💬	[1] MAP2K1 💬 Osteoclast differentiation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Osteoclast differentiation × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 289. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Osteoclast differentiation 💬	[1] MAP2K1 💬 Osteoclast differentiation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Osteoclast differentiation × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 290. 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;
291	Osteoclast differentiation 💬	[1] MAP2K1 💬 Osteoclast differentiation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Osteoclast differentiation × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 290. 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;
292	Osteoclast differentiation 💬	[1] PIK3CA_B_D 💬 Osteoclast differentiation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Osteoclast differentiation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 292. Osteoclast differentiation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Oxytocin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Oxytocin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Oxytocin signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 293. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Oxytocin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Oxytocin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Oxytocin signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 294. 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;
295	Oxytocin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Oxytocin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Oxytocin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 294. 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;
296	Pancreatic cancer 💬	[1] MAP2K1 💬 Pancreatic cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Pancreatic cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 296. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Pancreatic cancer 💬	[1] MAP2K1 💬 Pancreatic cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Pancreatic cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 297. 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;
298	Pancreatic cancer 💬	[1] MAP2K1 💬 Pancreatic cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Pancreatic cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 297. 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;
299	Pancreatic cancer 💬	[1] MTOR 💬 Pancreatic cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Pancreatic cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 299. Pancreatic cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
300	Pancreatic cancer 💬	[1] PIK3CA_B_D 💬 Pancreatic cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Pancreatic cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 300. Pancreatic cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
301	Parathyroid hormone synthesis, secretion and action 💬	[1] MAP2K1 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 301. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Parathyroid hormone synthesis, secretion and action 💬	[1] MAP2K1 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 302. 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;
303	Parathyroid hormone synthesis, secretion and action 💬	[1] MAP2K1 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 302. 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;
304	Pathways in cancer 💬	[2] MAP2K1, MAP2K2 💬 Pathways in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Pathways in cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 304. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Pathways in cancer 💬	[2] MAP2K1, MAP2K2 💬 Pathways in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Pathways in cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 305. 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;
306	Pathways in cancer 💬	[2] MAP2K1, MAP2K2 💬 Pathways in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Pathways in cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 305. 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;
307	Pathways in cancer 💬	[1] MTOR 💬 Pathways in cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Pathways in cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 307. Pathways in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	Pathways in cancer 💬	[1] PIK3CA_B_D 💬 Pathways in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Pathways in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 308. Pathways in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Pathways of neurodegeneration - multiple diseases 💬	[2] MAP2K1, MAP2K2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 309. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Pathways of neurodegeneration - multiple diseases 💬	[2] MAP2K1, MAP2K2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 310. 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;
311	Pathways of neurodegeneration - multiple diseases 💬	[2] MAP2K1, MAP2K2 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 310. 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;
312	Pathways of neurodegeneration - multiple diseases 💬	[1] MTOR 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 312. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	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 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 313. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	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 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 314. 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;
315	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 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 314. 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;
316	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 mechanistic target of rapamycin kinase	Sirolimus 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 316. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[1] PIK3CA_B_D 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 317. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Phosphatidylinositol signaling system 💬	[1] PIK3CA_B_D 💬 Phosphatidylinositol signaling system × Name Full Name PIK3CA_B_D	Alpelisib 💬 Phosphatidylinositol signaling system × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 318. Phosphatidylinositol signaling system × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Phospholipase D signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Phospholipase D signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Phospholipase D signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 319. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Phospholipase D signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Phospholipase D signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Phospholipase D signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 320. 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;
321	Phospholipase D signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Phospholipase D signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Phospholipase D signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 320. 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;
322	Phospholipase D signaling pathway 💬	[1] MTOR 💬 Phospholipase D signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Phospholipase D signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 322. Phospholipase D signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	Phospholipase D signaling pathway 💬	[1] PIK3CA_B_D 💬 Phospholipase D signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Phospholipase D signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 323. Phospholipase D signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	PI3K-Akt signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 PI3K-Akt signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 PI3K-Akt signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 324. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
325	PI3K-Akt signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 PI3K-Akt signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 PI3K-Akt signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 325. 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;
326	PI3K-Akt signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 PI3K-Akt signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 PI3K-Akt signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 325. 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;
327	PI3K-Akt signaling pathway 💬	[1] MTOR 💬 PI3K-Akt signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 PI3K-Akt signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 327. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
328	PI3K-Akt signaling pathway 💬	[1] PIK3CA_B_D 💬 PI3K-Akt signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 PI3K-Akt signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 328. PI3K-Akt signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Platelet activation 💬	[1] PIK3CA_B_D 💬 Platelet activation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Platelet activation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 329. Platelet activation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
330	Prion disease 💬	[1] PIK3CA_B_D 💬 Prion disease × Name Full Name PIK3CA_B_D	Alpelisib 💬 Prion disease × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 330. Prion disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Progesterone-mediated oocyte maturation 💬	[1] MAP2K1 💬 Progesterone-mediated oocyte maturation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Progesterone-mediated oocyte maturation × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 331. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Progesterone-mediated oocyte maturation 💬	[1] MAP2K1 💬 Progesterone-mediated oocyte maturation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Progesterone-mediated oocyte maturation × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 332. 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;
333	Progesterone-mediated oocyte maturation 💬	[1] MAP2K1 💬 Progesterone-mediated oocyte maturation × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Progesterone-mediated oocyte maturation × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 332. 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;
334	Progesterone-mediated oocyte maturation 💬	[1] PIK3CA_B_D 💬 Progesterone-mediated oocyte maturation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Progesterone-mediated oocyte maturation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 334. Progesterone-mediated oocyte maturation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Prolactin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Prolactin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Prolactin signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 335. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Prolactin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Prolactin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Prolactin signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 336. 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;
337	Prolactin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Prolactin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Prolactin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 336. 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;
338	Prolactin signaling pathway 💬	[1] PIK3CA_B_D 💬 Prolactin signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Prolactin signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 338. Prolactin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Prostate cancer 💬	[2] MAP2K1, MAP2K2 💬 Prostate cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Prostate cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 339. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Prostate cancer 💬	[2] MAP2K1, MAP2K2 💬 Prostate cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Prostate cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 340. 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;
341	Prostate cancer 💬	[2] MAP2K1, MAP2K2 💬 Prostate cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Prostate cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 340. 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;
342	Prostate cancer 💬	[1] MTOR 💬 Prostate cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Prostate cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 342. Prostate cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
343	Prostate cancer 💬	[1] PIK3CA_B_D 💬 Prostate cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Prostate cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 343. Prostate cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
344	Proteoglycans in cancer 💬	[2] MAP2K1, MAP2K2 💬 Proteoglycans in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Proteoglycans in cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 344. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
345	Proteoglycans in cancer 💬	[2] MAP2K1, MAP2K2 💬 Proteoglycans in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Proteoglycans in cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 345. 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;
346	Proteoglycans in cancer 💬	[2] MAP2K1, MAP2K2 💬 Proteoglycans in cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Proteoglycans in cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 345. 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;
347	Proteoglycans in cancer 💬	[1] MTOR 💬 Proteoglycans in cancer × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Proteoglycans in cancer × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 347. Proteoglycans in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
348	Proteoglycans in cancer 💬	[1] PIK3CA_B_D 💬 Proteoglycans in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Proteoglycans in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 348. Proteoglycans in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
349	Rap1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Rap1 signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Rap1 signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 349. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
350	Rap1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Rap1 signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Rap1 signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 350. 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;
351	Rap1 signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Rap1 signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Rap1 signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 350. 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;
352	Rap1 signaling pathway 💬	[1] PIK3CA_B_D 💬 Rap1 signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Rap1 signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 352. Rap1 signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Ras signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Ras signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Ras signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 353. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Ras signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Ras signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Ras signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 354. 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;
355	Ras signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Ras signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Ras signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 354. 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;
356	Ras signaling pathway 💬	[1] PIK3CA_B_D 💬 Ras signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Ras signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 356. Ras signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Regulation of actin cytoskeleton 💬	[2] MAP2K1, MAP2K2 💬 Regulation of actin cytoskeleton × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Regulation of actin cytoskeleton × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 357. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Regulation of actin cytoskeleton 💬	[2] MAP2K1, MAP2K2 💬 Regulation of actin cytoskeleton × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Regulation of actin cytoskeleton × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 358. 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;
359	Regulation of actin cytoskeleton 💬	[2] MAP2K1, MAP2K2 💬 Regulation of actin cytoskeleton × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Regulation of actin cytoskeleton × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 358. 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;
360	Regulation of actin cytoskeleton 💬	[1] PIK3CA_B_D 💬 Regulation of actin cytoskeleton × Name Full Name PIK3CA_B_D	Alpelisib 💬 Regulation of actin cytoskeleton × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 360. Regulation of actin cytoskeleton × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Regulation of lipolysis in adipocytes 💬	[1] PIK3CA_B_D 💬 Regulation of lipolysis in adipocytes × Name Full Name PIK3CA_B_D	Alpelisib 💬 Regulation of lipolysis in adipocytes × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 361. Regulation of lipolysis in adipocytes × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Relaxin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Relaxin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Relaxin signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 362. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
363	Relaxin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Relaxin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Relaxin signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 363. 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;
364	Relaxin signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Relaxin signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Relaxin signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 363. 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;
365	Relaxin signaling pathway 💬	[1] PIK3CA_B_D 💬 Relaxin signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Relaxin signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 365. Relaxin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
366	Renal cell carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Renal cell carcinoma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Renal cell carcinoma × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 366. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
367	Renal cell carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Renal cell carcinoma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Renal cell carcinoma × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 367. 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;
368	Renal cell carcinoma 💬	[2] MAP2K1, MAP2K2 💬 Renal cell carcinoma × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Renal cell carcinoma × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 367. 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;
369	Renal cell carcinoma 💬	[1] PIK3CA_B_D 💬 Renal cell carcinoma × Name Full Name PIK3CA_B_D	Alpelisib 💬 Renal cell carcinoma × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 369. Renal cell carcinoma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Renin secretion 💬	[1] ACE 💬 Renin secretion × Name Full Name ACE angiotensin I converting enzyme	Enalapril maleate 💬 Renin secretion × Name Other Names Enalapril maleate Enalapril maleate (JP18/USP) Renivace (TN) Vasotec (TN) ENALAPRIL MALEATE EPANED VASOTEC ENALAPRIL MALEATE ORAL SOLUTION	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 370. Renin secretion × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
371	Renin secretion 💬	[1] ACE 💬 Renin secretion × Name Full Name ACE angiotensin I converting enzyme	Enalapril 💬 Renin secretion × Name Other Names Enalapril Enalapril (INN) Enalapril (TN)	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 370. Renin secretion × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
372	Renin-angiotensin system 💬	[1] ACE 💬 Renin-angiotensin system × Name Full Name ACE angiotensin I converting enzyme	Enalapril maleate 💬 Renin-angiotensin system × Name Other Names Enalapril maleate Enalapril maleate (JP18/USP) Renivace (TN) Vasotec (TN) ENALAPRIL MALEATE EPANED VASOTEC ENALAPRIL MALEATE ORAL SOLUTION	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 372. Renin-angiotensin system × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
373	Renin-angiotensin system 💬	[1] ACE 💬 Renin-angiotensin system × Name Full Name ACE angiotensin I converting enzyme	Enalapril 💬 Renin-angiotensin system × Name Other Names Enalapril Enalapril (INN) Enalapril (TN)	Enalapril	[8] 13, 19, 46, 66, 113, 210, 222, 279 💬 372. Renin-angiotensin system × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 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;Muscle-eye-brain 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; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
374	Salmonella infection 💬	[2] MAP2K1, MAP2K2 💬 Salmonella infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Salmonella infection × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 374. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Salmonella infection 💬	[2] MAP2K1, MAP2K2 💬 Salmonella infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Salmonella infection × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 375. 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;
376	Salmonella infection 💬	[2] MAP2K1, MAP2K2 💬 Salmonella infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Salmonella infection × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 375. 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;
377	Salmonella infection 💬	[1] PIK3CA_B_D 💬 Salmonella infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Salmonella infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 377. Salmonella infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Serotonergic synapse 💬	[1] MAP2K1 💬 Serotonergic synapse × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 Serotonergic synapse × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 378. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
379	Serotonergic synapse 💬	[1] MAP2K1 💬 Serotonergic synapse × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 Serotonergic synapse × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 379. 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;
380	Serotonergic synapse 💬	[1] MAP2K1 💬 Serotonergic synapse × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 Serotonergic synapse × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 379. 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;
381	Shigellosis 💬	[1] MTOR 💬 Shigellosis × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Shigellosis × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 381. Shigellosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
382	Shigellosis 💬	[1] PIK3CA_B_D 💬 Shigellosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Shigellosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 382. Shigellosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
383	Signaling pathways regulating pluripotency of stem cells 💬	[2] MAP2K1, MAP2K2 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 383. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
384	Signaling pathways regulating pluripotency of stem cells 💬	[2] MAP2K1, MAP2K2 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 384. 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;
385	Signaling pathways regulating pluripotency of stem cells 💬	[2] MAP2K1, MAP2K2 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 384. 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;
386	Signaling pathways regulating pluripotency of stem cells 💬	[1] PIK3CA_B_D 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name PIK3CA_B_D	Alpelisib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 386. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
387	Small cell lung cancer 💬	[1] PIK3CA_B_D 💬 Small cell lung cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Small cell lung cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 387. Small cell lung cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
388	Sphingolipid signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Sphingolipid signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Sphingolipid signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 388. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Sphingolipid signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Sphingolipid signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Sphingolipid signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 389. 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;
390	Sphingolipid signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Sphingolipid signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Sphingolipid signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 389. 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;
391	Sphingolipid signaling pathway 💬	[1] PIK3CA_B_D 💬 Sphingolipid signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Sphingolipid signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 391. Sphingolipid signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Spinocerebellar ataxia 💬	[1] MTOR 💬 Spinocerebellar ataxia × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Spinocerebellar ataxia × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 392. Spinocerebellar ataxia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
393	Spinocerebellar ataxia 💬	[1] PIK3CA_B_D 💬 Spinocerebellar ataxia × Name Full Name PIK3CA_B_D	Alpelisib 💬 Spinocerebellar ataxia × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 393. Spinocerebellar ataxia × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	T cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 T cell receptor signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 T cell receptor signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 394. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	T cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 T cell receptor signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 T cell receptor signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 395. 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;
396	T cell receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 T cell receptor signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 T cell receptor signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 395. 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;
397	T cell receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 T cell receptor signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 T cell receptor signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 397. T cell receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Th17 cell differentiation 💬	[1] MTOR 💬 Th17 cell differentiation × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Th17 cell differentiation × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 398. Th17 cell differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	Thermogenesis 💬	[1] MTOR 💬 Thermogenesis × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Thermogenesis × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 399. Thermogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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	Thyroid cancer 💬	[2] MAP2K1, MAP2K2 💬 Thyroid cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Thyroid cancer × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 400. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Thyroid cancer 💬	[2] MAP2K1, MAP2K2 💬 Thyroid cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Thyroid cancer × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 401. 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;
402	Thyroid cancer 💬	[2] MAP2K1, MAP2K2 💬 Thyroid cancer × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Thyroid cancer × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 401. 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;
403	Thyroid hormone signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Thyroid hormone signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Thyroid hormone signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 403. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Thyroid hormone signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Thyroid hormone signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Thyroid hormone signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 404. 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;
405	Thyroid hormone signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Thyroid hormone signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Thyroid hormone signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 404. 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;
406	Thyroid hormone signaling pathway 💬	[1] MTOR 💬 Thyroid hormone signaling pathway × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Thyroid hormone signaling pathway × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 406. Thyroid hormone signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
407	Thyroid hormone signaling pathway 💬	[1] PIK3CA_B_D 💬 Thyroid hormone signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Thyroid hormone signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 407. Thyroid hormone signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	TNF signaling pathway 💬	[1] MAP2K1 💬 TNF signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Mirdametinib 💬 TNF signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 408. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	TNF signaling pathway 💬	[1] MAP2K1 💬 TNF signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib 💬 TNF signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 409. 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;
410	TNF signaling pathway 💬	[1] MAP2K1 💬 TNF signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1	Trametinib dimethyl sulfoxide 💬 TNF signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 409. 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;
411	TNF signaling pathway 💬	[1] PIK3CA_B_D 💬 TNF signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 TNF signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 411. TNF signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Toll-like receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Toll-like receptor signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Toll-like receptor signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 412. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Toll-like receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Toll-like receptor signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Toll-like receptor signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 413. 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;
414	Toll-like receptor signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 Toll-like receptor signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Toll-like receptor signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 413. 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;
415	Toll-like receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 Toll-like receptor signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Toll-like receptor signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 415. Toll-like receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Type II diabetes mellitus 💬	[1] MTOR 💬 Type II diabetes mellitus × Name Full Name MTOR mechanistic target of rapamycin kinase	Sirolimus 💬 Type II diabetes mellitus × Name Other Names Sirolimus Sirolimus (JAN/USAN/INN) Rapamune (TN) Rapamycin (TN) FYARRO HYFTOR RAPAMUNE SIROLIMUS	Sirolimus	[46]  2 ,  6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬 416. Type II diabetes mellitus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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; 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; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal 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; 137 Focal cortical dysplasia;FCD; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 192 Cockayne syndrome;CS; 193 Prader-Willi syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 227 Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease; 256 Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency; 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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;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;
417	Type II diabetes mellitus 💬	[1] PIK3CA_B_D 💬 Type II diabetes mellitus × Name Full Name PIK3CA_B_D	Alpelisib 💬 Type II diabetes mellitus × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 417. Type II diabetes mellitus × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Vascular smooth muscle contraction 💬	[2] MAP2K1, MAP2K2 💬 Vascular smooth muscle contraction × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Vascular smooth muscle contraction × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 418. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Vascular smooth muscle contraction 💬	[2] MAP2K1, MAP2K2 💬 Vascular smooth muscle contraction × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Vascular smooth muscle contraction × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 419. 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;
420	Vascular smooth muscle contraction 💬	[2] MAP2K1, MAP2K2 💬 Vascular smooth muscle contraction × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Vascular smooth muscle contraction × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 419. 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;
421	VEGF signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 VEGF signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 VEGF signaling pathway × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 421. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
422	VEGF signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 VEGF signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 VEGF signaling pathway × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 422. 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;
423	VEGF signaling pathway 💬	[2] MAP2K1, MAP2K2 💬 VEGF signaling pathway × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 VEGF signaling pathway × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 422. 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;
424	VEGF signaling pathway 💬	[1] PIK3CA_B_D 💬 VEGF signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 VEGF signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 424. VEGF signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Viral carcinogenesis 💬	[1] PIK3CA_B_D 💬 Viral carcinogenesis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Viral carcinogenesis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 425. Viral carcinogenesis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Yersinia infection 💬	[2] MAP2K1, MAP2K2 💬 Yersinia infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Mirdametinib 💬 Yersinia infection × Name Other Names Mirdametinib Mirdametinib (USAN) Gomekli (TN) GOMEKLI	Mirdametinib	[4] 34, 278, 279, 280 💬 426. 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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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	Yersinia infection 💬	[2] MAP2K1, MAP2K2 💬 Yersinia infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib 💬 Yersinia infection × Name Other Names Trametinib Trametinib (USAN)	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 427. 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;
428	Yersinia infection 💬	[2] MAP2K1, MAP2K2 💬 Yersinia infection × Name Full Name MAP2K1 mitogen-activated protein kinase kinase 1 MAP2K2 mitogen-activated protein kinase kinase 2	Trametinib dimethyl sulfoxide 💬 Yersinia infection × Name Other Names Trametinib dimethyl sulfoxide Trametinib dimethyl sulfoxide (JAN/USAN) Mekinist (TN) Spexotras (TN) MEKINIST	Trametinib	[6]  2 , 34, 58, 195, 279, 280 💬 427. 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;
429	Yersinia infection 💬	[1] PIK3CA_B_D 💬 Yersinia infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Yersinia infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 429. Yersinia infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;

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