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Gene

Search results

No.

KEGG PATHWAY
On map, Yellow: Drug target, Red: All disease-related

B cell receptor signaling pathway 💬

[1] BTK 💬

Acalabrutinib 💬

Acalabrutinib

[2] 46, 61 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;

B cell receptor signaling pathway 💬

[1] BTK 💬

Acalabrutinib maleate hydrate 💬

Acalabrutinib

[2] 46, 61 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;

B cell receptor signaling pathway 💬

[1] BTK 💬

Branebrutinib 💬

Branebrutinib

[3] 46, 49, 53 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

B cell receptor signaling pathway 💬

[1] BTK 💬

Elsubrutinib 💬

Elsubrutinib

[1] 49 💬

B cell receptor signaling pathway 💬

[1] BTK 💬

Evobrutinib 💬

Evobrutinib

[3] 13, 46, 49 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;

B cell receptor signaling pathway 💬

[1] BTK 💬

Fenebrutinib 💬

Fenebrutinib

[1] 13 💬

B cell receptor signaling pathway 💬

[1] BTK 💬

Ibrutinib 💬

Ibrutinib

[3] 28, 60, 61 💬

Disease ID	Name
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;

B cell receptor signaling pathway 💬

[1] BTK 💬

Orelabrutinib 💬

Orelabrutinib

[4] 13, 49, 61, 63 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
49	Systemic lupus erythematosus;SLE;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;

B cell receptor signaling pathway 💬

[1] BTK 💬

Pirtobrutinib 💬

Pirtobrutinib

[1] 13 💬

B cell receptor signaling pathway 💬

[1] BTK 💬

Remibrutinib 💬

Remibrutinib

[3] 11, 13, 53 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

B cell receptor signaling pathway 💬

[1] BTK 💬

Rilzabrutinib 💬

Rilzabrutinib

[5] 35, 61, 63, 222, 300 💬

Disease ID	Name
35	Pemphigus;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
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;

B cell receptor signaling pathway 💬

[1] BTK 💬

Tirabrutinib hydrochloride 💬

Tirabrutinib

[2] 46, 53 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

B cell receptor signaling pathway 💬

[1] BTK 💬

Tirabrutinib 💬

Tirabrutinib

[2] 46, 53 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

B cell receptor signaling pathway 💬

[1] BTK 💬

Tolebrutinib 💬

Tolebrutinib

[2] 11, 13 💬

B cell receptor signaling pathway 💬

[1] BTK 💬

Zanubrutinib 💬

Zanubrutinib

[6] 13, 61, 63, 222, 300, 331 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
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;

B cell receptor signaling pathway 💬

[1] CD19 💬

Blinatumomab 💬

Blinatumomab

[3] 11, 46, 49 💬

B cell receptor signaling pathway 💬

[1] CD19 💬

Inebilizumab 💬

Inebilizumab

[6] 11, 13, 46, 49, 51, 300 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
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;

B cell receptor signaling pathway 💬

[1] CD19 💬

Obecabtagene autoleucel 💬

Obecabtagene autoleucel

[1] 49 💬

B cell receptor signaling pathway 💬

[1] CD19 💬

Obexelimab 💬

Obexelimab

[4] 13, 49, 61, 300 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
49	Systemic lupus erythematosus;SLE;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
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;

B cell receptor signaling pathway 💬

[1] CD19 💬

Tafasitamab 💬

Tafasitamab

[1] 51 💬

B cell receptor signaling pathway 💬

[1] CD22 💬

Epratuzumab 💬

Epratuzumab

[1] 49 💬

B cell receptor signaling pathway 💬

[1] LILR 💬

Daxdilimab 💬

Daxdilimab

[2] 49, 50 💬

B cell receptor signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Binimetinib 💬

Binimetinib

[1] 34 💬

B cell receptor signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Cobimetinib 💬

Cobimetinib

[1] 280 💬

B cell receptor signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Cobimetinib fumarate 💬

Cobimetinib

[1] 280 💬

B cell receptor signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Mirdametinib 💬

Mirdametinib

[4] 34, 278, 279, 280 💬

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;

B cell receptor signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Selumetinib 💬

Selumetinib

[1] 34 💬

B cell receptor signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Selumetinib sulfate 💬

Selumetinib

[1] 34 💬

B cell receptor signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Trametinib 💬

Trametinib

[6] 2 , 34, 58, 195, 279, 280 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
58	Hypertrophic cardiomyopathy;HCM;
195	Noonan syndrome;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;

B cell receptor signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Trametinib dimethyl sulfoxide 💬

Trametinib

[6] 2 , 34, 58, 195, 279, 280 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
58	Hypertrophic cardiomyopathy;HCM;
195	Noonan syndrome;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;

B cell receptor signaling pathway 💬

[1] NFKB1 💬

Iguratimod 💬

Iguratimod

[6] 46, 49, 51, 53, 271, 300 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
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;

B cell receptor signaling pathway 💬

[1] PIK3CA_B_D 💬

Alpelisib 💬

Alpelisib

[4] 138, 278, 279, 280 💬

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;

B cell receptor signaling pathway 💬

[1] PIK3CA_B_D 💬

Leniolisib phosphate 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;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;

B cell receptor signaling pathway 💬

[1] PIK3CA_B_D 💬

Parsaclisib 💬

Parsaclisib

[3] 35, 53, 61 💬

Disease ID	Name
35	Pemphigus;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;

B cell receptor signaling pathway 💬

[2] PIK3CA_B_D, PIK3CA_B_D 💬

Copanlisib 💬

Copanlisib

[1] 121 💬

Disease ID

Name

121

Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;

B cell receptor signaling pathway 💬

[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬

Leniolisib 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

B cell receptor signaling pathway 💬

[5] PPP3C, PPP3C, PPP3C, PPP3R, PPP3R 💬

Cyclosporine 💬

Name	Other Names
Cyclosporine	Cyclosporine (USP) Ciclosporin (JP18) Gengraf (TN) Neoral (TN) Restasis (TN) Sandimmune (TN) CEQUA NEORAL RESTASIS RESTASIS MULTIDOSE SANDIMMUNE VERKAZIA VEVYE CYCLOSPORINE CYCLOSPORINE, MODFIED GENGRAF

Cyclosporine

[42] 11, 19, 20, 26, 28, 36, 40, 41, 42, 45, 46, 49, 50, 53, 54, 55, 56, 58, 60, 61, 62, 63, 64, 65, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
20	Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis;
36	Epidermolysis bullosa;Kindler syndrome;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
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;
162	Pemphigoid;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;LHON;Leber disease;
326	Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;

B cell receptor signaling pathway 💬

[5] PPP3C, PPP3C, PPP3C, PPP3R, PPP3R 💬

Voclosporin 💬

Voclosporin

[2] 49, 222 💬

Disease ID	Name
49	Systemic lupus erythematosus;SLE;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;

B cell receptor signaling pathway 💬

[5] PPP3C, PPP3C, PPP3C, PPP3R, PPP3R 💬

Pimecrolimus 💬

Pimecrolimus

[1] 160 💬

Disease ID

Name

160

Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS;

B cell receptor signaling pathway 💬

[5] PPP3C, PPP3C, PPP3C, PPP3R, PPP3R 💬

Tacrolimus 💬

Tacrolimus

[33] 2 , 6 , 11, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
36	Epidermolysis bullosa;Kindler syndrome;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
95	Autoimmune hepatitis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
113	Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;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;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
224	Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;CF;

B cell receptor signaling pathway 💬

[5] PPP3C, PPP3C, PPP3C, PPP3R, PPP3R 💬

Tacrolimus 💬

Tacrolimus

[33] 2 , 6 , 11, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 234, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
36	Epidermolysis bullosa;Kindler syndrome;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
95	Autoimmune hepatitis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
113	Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;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;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
224	Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;CF;

B cell receptor signaling pathway 💬

[1] PRKCB 💬

Enzastaurin hydrochloride 💬

Enzastaurin

[1] 168 💬

Disease ID

Name

168

Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS;

B cell receptor signaling pathway 💬

[1] PRKCB 💬

Enzastaurin 💬

Enzastaurin

[1] 168 💬

Disease ID

Name

168

B cell receptor signaling pathway 💬

[1] RAF1 💬

Sorafenib tosylate 💬

Sorafenib

[2] 34, 86 💬

B cell receptor signaling pathway 💬

[1] RAF1 💬

Sorafenib 💬

Sorafenib

[2] 34, 86 💬

B cell receptor signaling pathway 💬

[1] RELA 💬

Edasalonexent 💬

Edasalonexent

[1] 113 💬

Disease ID

Name

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;

B cell receptor signaling pathway 💬

[1] SYK 💬

Fostamatinib 💬

Fostamatinib

[5] 46, 49, 61, 63, 66 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;

B cell receptor signaling pathway 💬

[1] SYK 💬

Fostamatinib disodium 💬

Fostamatinib

[5] 46, 49, 61, 63, 66 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;

B cell receptor signaling pathway 💬

[1] SYK 💬

Gusacitinib 💬

Gusacitinib

[1] 49 💬

Bacterial invasion of epithelial cells 💬

[2] ITGA5, ITGB1 💬

Bexotegrast 💬

Bexotegrast

[1] 94 💬

Bacterial invasion of epithelial cells 💬

[1] ITGB1 💬

Carotegrast methyl 💬

Carotegrast methyl

[1] 97 💬

Bacterial invasion of epithelial cells 💬

[1] MET 💬

Cabozantinib 💬

Cabozantinib

[1] 34 💬

Bacterial invasion of epithelial cells 💬

[1] MET 💬

Cabozantinib s-malate 💬

Cabozantinib

[1] 34 💬

Bacterial invasion of epithelial cells 💬

[1] PIK3CA_B_D 💬

Alpelisib 💬

Alpelisib

[4] 138, 278, 279, 280 💬

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;

Bacterial invasion of epithelial cells 💬

[1] PIK3CA_B_D 💬

Leniolisib phosphate 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

Bacterial invasion of epithelial cells 💬

[1] PIK3CA_B_D 💬

Parsaclisib 💬

Parsaclisib

[3] 35, 53, 61 💬

Disease ID	Name
35	Pemphigus;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;

Bacterial invasion of epithelial cells 💬

[2] PIK3CA_B_D, PIK3CA_B_D 💬

Copanlisib 💬

Copanlisib

[1] 121 💬

Disease ID

Name

121

Bacterial invasion of epithelial cells 💬

[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬

Leniolisib 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

Bacterial invasion of epithelial cells 💬

[1] SRC 💬

Bosutinib 💬

Bosutinib

[2] 2 , 67 💬

Bacterial invasion of epithelial cells 💬

[1] SRC 💬

Bosutinib hydrate 💬

Bosutinib

[2] 2 , 67 💬

Bacterial invasion of epithelial cells 💬

[1] SRC 💬

Dasatinib 💬

Dasatinib

[2] 51, 85 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

Bacterial invasion of epithelial cells 💬

[1] SRC 💬

Dasatinib 💬

Dasatinib

[2] 51, 85 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

Bacterial invasion of epithelial cells 💬

[1] SRC 💬

Saracatinib 💬

Saracatinib

[3] 6 , 89, 272 💬

Basal cell carcinoma 💬

[1] SMO 💬

Taladegib 💬

Taladegib

[1] 85 💬

Disease ID	Name
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

Basal cell carcinoma 💬

[1] SMO 💬

Vismodegib 💬

Vismodegib

[1] 85 💬

Disease ID	Name
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

Base excision repair 💬

[2] PARP1, PARP2 💬

Olaparib 💬

Olaparib

[2] 86, 285 💬

beta-Alanine metabolism 💬

[1] ABAT 💬

Vigabatrin 💬

Vigabatrin

[2] 145, 158 💬

Disease ID	Name
145	West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;

beta-Alanine metabolism 💬

[3] ABAT, E4.1.1.15, E4.1.1.15 💬

Valproic acid 💬

Valproic acid

[13] 2 , 3 , 5 , 6 , 13, 26, 34, 65, 89, 90, 127, 222, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;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;
89	Lymphangioleiomyomatosis;LAM;
90	Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

beta-Alanine metabolism 💬

[3] ABAT, E4.1.1.15, E4.1.1.15 💬

Divalproex sodium 💬

Valproic acid

[13] 2 , 3 , 5 , 6 , 13, 26, 34, 65, 89, 90, 127, 222, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;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;
89	Lymphangioleiomyomatosis;LAM;
90	Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

beta-Alanine metabolism 💬

[3] ABAT, E4.1.1.15, E4.1.1.15 💬

Valproate sodium 💬

Valproic acid

[13] 2 , 3 , 5 , 6 , 13, 26, 34, 65, 89, 90, 127, 222, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;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;
89	Lymphangioleiomyomatosis;LAM;
90	Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

beta-Alanine metabolism 💬

[1] AOC3 💬

Hydralazine 💬

Hydralazine

[1] 67 💬

Bile secretion 💬

[4] ATP1A, ATP1A, ATP1A, ATP1A 💬

Digitoxin 💬

Digitoxin

[1] 299 💬

Bile secretion 💬

[4] ATP1A, ATP1A, ATP1A, ATP1A 💬

Digoxin 💬

Digoxin

[3] 8 , 46, 210 💬

Disease ID	Name
8	Huntington disease;Huntington chorea;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;

Bile secretion 💬

[1] CA2 💬

Acetazolamide 💬

Acetazolamide

[6] 13, 90, 115, 155, 225, 230 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
90	Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy;
115	Hereditary periodic paralysis;Hereditary hypokalemic periodic paralysis;Andersen-Tawil syndrome;Hereditary hyperkalemic periodic paralysis;
155	Acquired aphasia with convulsive disorder;Landau-Kleffner syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
230	Alveolar hypoventilation syndrome;AHS;Hypoventilation syndrome;

Bile secretion 💬

[1] CA2 💬

Acetazolamide sodium 💬

Acetazolamide

[6] 13, 90, 115, 155, 225, 230 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
90	Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy;
115	Hereditary periodic paralysis;Hereditary hypokalemic periodic paralysis;Andersen-Tawil syndrome;Hereditary hyperkalemic periodic paralysis;
155	Acquired aphasia with convulsive disorder;Landau-Kleffner syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
230	Alveolar hypoventilation syndrome;AHS;Hypoventilation syndrome;

Bile secretion 💬

[1] CA2 💬

Dichlorphenamide 💬

Diclofenamide

[1] 114 💬

Disease ID	Name
114	Non-dystrophic myotonia syndrome;Non-dystrophic Myotonia;Myotonia congenita;Thomsen disease;Autosomal-dominant myotonia congenita;Becker disease;Autosomal-recessive myotonia congenita;Paramyotonia congenita;Sodium channel myotonia;

Bile secretion 💬

[1] CA2 💬

Dorzolamide hydrochloride 💬

Dorzolamide

[1] 90 💬

Bile secretion 💬

[1] CA2 💬

Dorzolamide 💬

Dorzolamide

[1] 90 💬

Bile secretion 💬

[1] CA2 💬

Topiramate 💬

Topiramate

[5] 6 , 140, 144, 156, 193 💬

Bile secretion 💬

[1] CFTR 💬

Deutivacaftor 💬

Deutivacaftor

[1] 299 💬

Bile secretion 💬

[1] CFTR 💬

Elexacaftor 💬

Elexacaftor

[1] 299 💬

Bile secretion 💬

[1] CFTR 💬

Galicaftor 💬

Galicaftor

[1] 299 💬

Bile secretion 💬

[1] CFTR 💬

Ivacaftor 💬

Ivacaftor

[2] 299, 340 💬

Bile secretion 💬

[1] CFTR 💬

Lumacaftor 💬

Lumacaftor

[1] 299 💬

Bile secretion 💬

[1] CFTR 💬

Navocaftor 💬

Navocaftor

[1] 299 💬

Bile secretion 💬

[1] CFTR 💬

Tezacaftor 💬

Tezacaftor

[1] 299 💬

Bile secretion 💬

[1] CFTR 💬

Vanzacaftor 💬

Vanzacaftor

[1] 299 💬

Bile secretion 💬

[1] HMGCR 💬

Atorvastatin calcium 💬

Atorvastatin

[20] 13, 22, 46, 49, 51, 58, 63, 67, 79, 84, 88, 93, 96, 97, 160, 225, 265, 271, 297, 299 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
22	Moyamoya disease;Occlusive disease in circle of Willis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
58	Hypertrophic cardiomyopathy;HCM;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD;
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
84	Sarcoidosis;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
160	Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
265	Lipodystrophy;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
297	Alagille syndrome;
299	Cystic fibrosis;CF;

Bile secretion 💬

[1] HMGCR 💬

Atorvastatin 💬

Atorvastatin

[20] 13, 22, 46, 49, 51, 58, 63, 67, 79, 84, 88, 93, 96, 97, 160, 225, 265, 271, 297, 299 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
22	Moyamoya disease;Occlusive disease in circle of Willis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
58	Hypertrophic cardiomyopathy;HCM;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD;
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
84	Sarcoidosis;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
160	Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
265	Lipodystrophy;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
297	Alagille syndrome;
299	Cystic fibrosis;CF;

Bile secretion 💬

[1] HMGCR 💬

Fluvastatin sodium 💬

Fluvastatin

[2] 79, 222 💬

Disease ID	Name
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;

Bile secretion 💬

[1] HMGCR 💬

Fluvastatin 💬

Fluvastatin

[2] 79, 222 💬

Disease ID	Name
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;

Bile secretion 💬

[1] HMGCR 💬

Lovastatin 💬

Lovastatin

[11] 6 , 34, 46, 79, 156, 160, 195, 206, 263, 280, 310 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
156	Rett syndrome;
160	Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS;
195	Noonan syndrome;
206	Fragile X syndrome;
263	Cerebrotendinous xanthomatosis;CTX;27-hydroxylase deficiency;CYP27 deficiency;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
310	Congenital anomalies syndrome;Partial trisomy 1q syndrome;Trisomy 1q;9q34 deletion syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;

Bile secretion 💬

[1] HMGCR 💬

Pitavastatin calcium 💬

Pitavastatin

[1] 49 💬

Bile secretion 💬

[1] HMGCR 💬

Pitavastatin magnesium 💬

Pitavastatin

[1] 49 💬

Bile secretion 💬

[1] HMGCR 💬

Pravastatin sodium 💬

Pravastatin

[10] 13, 46, 49, 67, 79, 96, 164, 210, 265, 333 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD;
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
265	Lipodystrophy;
333	Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;

Bile secretion 💬

[1] HMGCR 💬

Pravastatin 💬

Pravastatin

[10] 13, 46, 49, 67, 79, 96, 164, 210, 265, 333 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD;
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
265	Lipodystrophy;
333	Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;

Bile secretion 💬

[1] HMGCR 💬

Rosuvastatin calcium 💬

Rosuvastatin

[13] 6 , 18, 46, 49, 51, 56, 65, 79, 94, 96, 97, 271, 299 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
18	Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
56	Behcet disease;Behçet disease;BD;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;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;
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
94	Primary sclerosing cholangitis;PSC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
299	Cystic fibrosis;CF;

Bile secretion 💬

[1] HMGCR 💬

Rosuvastatin 💬

Rosuvastatin

[13] 6 , 18, 46, 49, 51, 56, 65, 79, 94, 96, 97, 271, 299 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
18	Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
56	Behcet disease;Behçet disease;BD;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;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;
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
94	Primary sclerosing cholangitis;PSC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
299	Cystic fibrosis;CF;

Bile secretion 💬

[1] HMGCR 💬

Simvastatin 💬

Simvastatin

[21] 6 , 13, 15, 34, 46, 49, 51, 66, 79, 86, 89, 94, 158, 160, 162, 195, 265, 288, 298, 299, 310 💬

Disease ID	Name
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;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
79	Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
94	Primary sclerosing cholangitis;PSC;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
160	Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS;
162	Pemphigoid;
195	Noonan syndrome;
265	Lipodystrophy;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Factor XIII deficiency;Factor VIII deficiency;Acquired hemophilia A;VWF deficiency;von Willebrand Disease;VWD;Factor V deficiency;Factor X deficiency;
298	Hereditary pancreatitis;Chronic pancreatitis;
299	Cystic fibrosis;CF;
310	Congenital anomalies syndrome;Partial trisomy 1q syndrome;Trisomy 1q;9q34 deletion syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;

100

Bile secretion 💬

[1] NR1H4 💬

Chenodiol 💬

Chenodeoxycholic acid

[4] 20, 96, 234, 263 💬

Disease ID	Name
20	Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;
263	Cerebrotendinous xanthomatosis;CTX;27-hydroxylase deficiency;CYP27 deficiency;

101

Bile secretion 💬

[1] NR1H4 💬

Cholic acid 💬

Cholic Acid

[4] 20, 234, 265, 310 💬

Disease ID	Name
20	Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;
265	Lipodystrophy;
310	Congenital anomalies syndrome;Partial trisomy 1q syndrome;Trisomy 1q;9q34 deletion syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;

102

Bile secretion 💬

[1] NR1H4 💬

Obeticholic acid 💬

Obeticholic acid

[3] 93, 265, 296 💬

103

Bile secretion 💬

[1] NR1H4 💬

Tropifexor 💬

Tropifexor

[1] 93 💬

104

Bile secretion 💬

[1] NR1H4 💬

Ursodiol 💬

Ursodeoxycholic acid

[14] 6 , 8 , 20, 46, 67, 84, 93, 94, 95, 96, 97, 234, 296, 299 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
20	Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
94	Primary sclerosing cholangitis;PSC;
95	Autoimmune hepatitis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease;
296	Biliary atresia;
299	Cystic fibrosis;CF;

105

Bile secretion 💬

[1] RXRA 💬

Acitretin 💬

Acitretin

[1] 37 💬

106

Bile secretion 💬

[1] RXRA 💬

Alitretinoin 💬

Alitretinoin

[1] 49 💬

107

Bile secretion 💬

[1] RXRA 💬

Bexarotene 💬

Bexarotene

[2] 13, 75 💬

108

Bile secretion 💬

[1] SCTR 💬

Secretin 💬

Secretin human

[1] 298 💬

109

Bile secretion 💬

[2] SLC10A1, SLC10A2 💬

Maralixibat 💬

Maralixibat

[4] 296, 297, 299, 338 💬

110

Bile secretion 💬

[1] SLC10A2 💬

Elobixibat 💬

Elobixibat

[1] 6 💬

111

Bile secretion 💬

[1] SLC10A2 💬

Linerixibat 💬

Linerixibat

[1] 93 💬

112

Bile secretion 💬

[1] SLC10A2 💬

Maralixibat chloride 💬

Maralixibat

[4] 296, 297, 299, 338 💬

113

Bile secretion 💬

[1] SLC10A2 💬

Odevixibat 💬

Odevixibat

[3] 296, 297, 338 💬

114

Bile secretion 💬

[1] SLC5A1 💬

Sotagliflozin 💬

Sotagliflozin

[2] 58, 84 💬

115

Bile secretion 💬

[1] SLC9A3 💬

Tenapanor 💬

Tenapanor

[2] 6 , 299 💬

116

Bile secretion 💬

[1] SLC9A3 💬

Tenapanor hydrochloride 💬

Tenapanor

[2] 6 , 299 💬

117

Bladder cancer 💬

[1] BRAF 💬

Dabrafenib 💬

Dabrafenib

[1] 34 💬

118

Bladder cancer 💬

[1] BRAF 💬

Dabrafenib mesylate 💬

Dabrafenib

[1] 34 💬

119

Bladder cancer 💬

[2] BRAF, RAF1 💬

Sorafenib tosylate 💬

Sorafenib

[2] 34, 86 💬

120

Bladder cancer 💬

[2] BRAF, RAF1 💬

Sorafenib 💬

Sorafenib

[2] 34, 86 💬

121

Bladder cancer 💬

[1] CDK4 💬

Abemaciclib 💬

Abemaciclib

[1] 34 💬

122

Bladder cancer 💬

[1] EGFR 💬

Cetuximab 💬

Cetuximab

[5] 34, 51, 86, 89, 331 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

123

Bladder cancer 💬

[1] EGFR 💬

Erlotinib hydrochloride 💬

Erlotinib

[2] 94, 160 💬

Disease ID

Name

Primary sclerosing cholangitis;PSC;

160

124

Bladder cancer 💬

[1] EGFR 💬

Erlotinib 💬

Erlotinib

[2] 94, 160 💬

Disease ID

Name

Primary sclerosing cholangitis;PSC;

160

125

Bladder cancer 💬

[1] EGFR 💬

Gefitinib 💬

Gefitinib

[1] 75 💬

126

Bladder cancer 💬

[1] EGFR 💬

Icotinib 💬

Icotinib

[1] 34 💬

127

Bladder cancer 💬

[2] EGFR, ERBB2 💬

Afatinib 💬

Afatinib

[1] 285 💬

128

Bladder cancer 💬

[2] EGFR, ERBB2 💬

Afatinib dimaleate 💬

Afatinib

[1] 285 💬

129

Bladder cancer 💬

[2] EGFR, ERBB2 💬

Lapatinib ditosylate 💬

Lapatinib

[3] 34, 74, 75 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;
75	Cushing disease;Cushing syndrome;

130

Bladder cancer 💬

[2] EGFR, ERBB2 💬

Lapatinib 💬

Lapatinib

[3] 34, 74, 75 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;
75	Cushing disease;Cushing syndrome;

131

Bladder cancer 💬

[2] EGFR, ERBB2 💬

Neratinib 💬

Neratinib

[1] 34 💬

132

Bladder cancer 💬

[2] EGFR, ERBB2 💬

Neratinib maleate 💬

Neratinib

[1] 34 💬

133

Bladder cancer 💬

[2] EGFR, ERBB2 💬

Tesevatinib 💬

Tesevatinib

[1] 67 💬

134

Bladder cancer 💬

[1] FGFR3 💬

Catequentinib 💬

Anlotinib

[1] 85 💬

Disease ID	Name
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

135

Bladder cancer 💬

[1] FGFR3 💬

Infigratinib 💬

Infigratinib

[1] 276 💬

136

Bladder cancer 💬

[1] FGFR3 💬

Infigratinib phosphate 💬

Infigratinib

[1] 276 💬

137

Bladder cancer 💬

[1] FGFR3 💬

Nintedanib esylate 💬

Nintedanib

[7] 51, 84, 85, 89, 227, 228, 331 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
89	Lymphangioleiomyomatosis;LAM;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

138

Bladder cancer 💬

[1] FGFR3 💬

Nintedanib 💬

Nintedanib

[7] 51, 84, 85, 89, 227, 228, 331 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
89	Lymphangioleiomyomatosis;LAM;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

139

Bladder cancer 💬

[1] FGFR3 💬

Recifercept 💬

Recifercept

[1] 276 💬

140

Bladder cancer 💬

[2] MAP2K1, MAP2K2 💬

Binimetinib 💬

Binimetinib

[1] 34 💬

141

Bladder cancer 💬

[2] MAP2K1, MAP2K2 💬

Cobimetinib 💬

Cobimetinib

[1] 280 💬

142

Bladder cancer 💬

[2] MAP2K1, MAP2K2 💬

Cobimetinib fumarate 💬

Cobimetinib

[1] 280 💬

143

Bladder cancer 💬

[2] MAP2K1, MAP2K2 💬

Mirdametinib 💬

Mirdametinib

[4] 34, 278, 279, 280 💬

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

Bladder cancer 💬

[2] MAP2K1, MAP2K2 💬

Selumetinib 💬

Selumetinib

[1] 34 💬

145

Bladder cancer 💬

[2] MAP2K1, MAP2K2 💬

Selumetinib sulfate 💬

Selumetinib

[1] 34 💬

146

Bladder cancer 💬

[2] MAP2K1, MAP2K2 💬

Trametinib 💬

Trametinib

[6] 2 , 34, 58, 195, 279, 280 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
58	Hypertrophic cardiomyopathy;HCM;
195	Noonan syndrome;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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

Bladder cancer 💬

[2] MAP2K1, MAP2K2 💬

Trametinib dimethyl sulfoxide 💬

Trametinib

[6] 2 , 34, 58, 195, 279, 280 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
58	Hypertrophic cardiomyopathy;HCM;
195	Noonan syndrome;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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

Bladder cancer 💬

[1] MMP9 💬

Andecaliximab 💬

Andecaliximab

[5] 46, 96, 97, 272, 299 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
272	Fibrodysplasia ossificans progressiva;FOP;
299	Cystic fibrosis;CF;

149

Bladder cancer 💬

[1] SRC 💬

Bosutinib 💬

Bosutinib

[2] 2 , 67 💬

150

Bladder cancer 💬

[1] SRC 💬

Bosutinib hydrate 💬

Bosutinib

[2] 2 , 67 💬

151

Bladder cancer 💬

[1] SRC 💬

Dasatinib 💬

Dasatinib

[2] 51, 85 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

152

Bladder cancer 💬

[1] SRC 💬

Dasatinib 💬

Dasatinib

[2] 51, 85 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

153

Bladder cancer 💬

[1] SRC 💬

Saracatinib 💬

Saracatinib

[3] 6 , 89, 272 💬

154

Bladder cancer 💬

[1] VEGFA 💬

Aflibercept 💬

Name	Other Names
Aflibercept	Aflibercept (USAN/INN) Aflibercept (genetical recombination) (JAN) Aflibercept (genetical recombination) [Aflibercept biosimilar 1] (JAN) Ziv-aflibercept Aflibercept-mrbb Eylea (TN) Zaltrap (TN) Ahzantive (TN) AHZANTIVE EYLEA EYLEA HD OPUVIZ PAVBLU ZALTRAP

Aflibercept

[2] 90, 166 💬

155

Bladder cancer 💬

[1] VEGFA 💬

Bevacizumab 💬

Name

Other Names

Bevacizumab

Bevacizumab (USAN)
Bevacizumab (genetical recombination) (JAN)
Bevacizumab (genetical recombination) [Bevacizumab biosimilar 1] (JAN)
Bevacizumab (genetical recombination) [Bevacizumab biosimilar 2] (JAN)
Bevacizumab (genetical recombination) [Bevacizumab biosimilar 3] (JAN)
Bevacizumab (genetical recombination) [Bevacizumab biosimilar 4] (JAN)
Bevacizumab-awwb
Bevacizumab-bvzr
Bevacizumab-maly
Bevacizumab-adcd
Bevacizumab-tnjn
Bevacizumab-nwgd
Avastin (TN)
Alymsys (TN)
Mvasi (TN)
Vegzelma (TN)
Zirabev (TN)
ALYMSYS
AVASTIN
AVZIVI
JOBEVNE
MVASI
VEGZELMA
ZIRABEV

Bevacizumab

[8] 13, 34, 85, 87, 89, 227, 280, 331 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
87	Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH;
89	Lymphangioleiomyomatosis;LAM;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

156

Bladder cancer 💬

[1] VEGFA 💬

Ranibizumab 💬

Name	Other Names
Ranibizumab	Ranibizumab (USAN/INN) Ranibizumab (genetical recombination) (JAN) Ranibizumab (genetical recombination) [Ranibizumab biosimilar 1] (JAN) Ranibizumab-nuna Ranibizumab-eqrn Byooviz (TN) Cimerli (TN) Lucentis (TN) Susvimo (TN) Ximluci (TN) BYOOVIZ CIMERLI LUCENTIS SUSVIMO

Ranibizumab

[4] 34, 166, 227, 301 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
166	Pseudoxanthoma elasticum;PXE;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
301	Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;

157

Breast cancer 💬

[1] BRAF 💬

Dabrafenib 💬

Dabrafenib

[1] 34 💬

158

Breast cancer 💬

[1] BRAF 💬

Dabrafenib mesylate 💬

Dabrafenib

[1] 34 💬

159

Breast cancer 💬

[4] BRAF, FLT4, KIT, RAF1 💬

Name	Full Name
BRAF	B-Raf proto-oncogene, serine/threonine kinase
FLT4	fms related receptor tyrosine kinase 4
KIT	KIT proto-oncogene, receptor tyrosine kinase
RAF1	Raf-1 proto-oncogene, serine/threonine kinase

Sorafenib tosylate 💬

Sorafenib

[2] 34, 86 💬

160

Breast cancer 💬

[4] BRAF, FLT4, KIT, RAF1 💬

Name	Full Name
BRAF	B-Raf proto-oncogene, serine/threonine kinase
FLT4	fms related receptor tyrosine kinase 4
KIT	KIT proto-oncogene, receptor tyrosine kinase
RAF1	Raf-1 proto-oncogene, serine/threonine kinase

Sorafenib 💬

Sorafenib

[2] 34, 86 💬

161

Breast cancer 💬

[2] CDK4, CDK6 💬

Abemaciclib 💬

Abemaciclib

[1] 34 💬

162

Breast cancer 💬

[1] EGFR 💬

Cetuximab 💬

Cetuximab

[5] 34, 51, 86, 89, 331 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

163

Breast cancer 💬

[1] EGFR 💬

Erlotinib hydrochloride 💬

Erlotinib

[2] 94, 160 💬

Disease ID

Name

Primary sclerosing cholangitis;PSC;

160

164

Breast cancer 💬

[1] EGFR 💬

Erlotinib 💬

Erlotinib

[2] 94, 160 💬

Disease ID

Name

Primary sclerosing cholangitis;PSC;

160

165

Breast cancer 💬

[1] EGFR 💬

Gefitinib 💬

Gefitinib

[1] 75 💬

166

Breast cancer 💬

[1] EGFR 💬

Icotinib 💬

Icotinib

[1] 34 💬

167

Breast cancer 💬

[2] EGFR, ERBB2 💬

Afatinib 💬

Afatinib

[1] 285 💬

168

Breast cancer 💬

[2] EGFR, ERBB2 💬

Afatinib dimaleate 💬

Afatinib

[1] 285 💬

169

Breast cancer 💬

[2] EGFR, ERBB2 💬

Lapatinib ditosylate 💬

Lapatinib

[3] 34, 74, 75 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;
75	Cushing disease;Cushing syndrome;

170

Breast cancer 💬

[2] EGFR, ERBB2 💬

Lapatinib 💬

Lapatinib

[3] 34, 74, 75 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;
75	Cushing disease;Cushing syndrome;

171

Breast cancer 💬

[2] EGFR, ERBB2 💬

Neratinib 💬

Neratinib

[1] 34 💬

172

Breast cancer 💬

[2] EGFR, ERBB2 💬

Neratinib maleate 💬

Neratinib

[1] 34 💬

173

Breast cancer 💬

[3] EGFR, ERBB2, FLT4 💬

Tesevatinib 💬

Tesevatinib

[1] 67 💬

174

Breast cancer 💬

[1] ESR1 💬

Ethinyl estradiol 💬

Ethinylestradiol

[4] 13, 46, 49, 299 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
299	Cystic fibrosis;CF;

175

Breast cancer 💬

[2] ESR1, ESR2 💬

Bazedoxifene acetate 💬

Bazedoxifene

[1] 13 💬

176

Breast cancer 💬

[2] ESR1, ESR2 💬

Clomiphene citrate 💬

Clomifene

[2] 74, 77 💬

Disease ID	Name
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly;

177

Breast cancer 💬

[2] ESR1, ESR2 💬

Clomifene 💬

Clomifene

[2] 74, 77 💬

Disease ID	Name
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly;

178

Breast cancer 💬

[2] ESR1, ESR2 💬

Estetrol 💬

Estetrol

[1] 53 💬

179

Breast cancer 💬

[2] ESR1, ESR2 💬

Estetrol 💬

Estetrol

[1] 53 💬

180

Breast cancer 💬

[2] ESR1, ESR2 💬

Estradiol 💬

Name	Other Names
Estradiol	Estradiol (JAN/USP/INN) Climara (TN) Divigel (TN) Estrace (TN) Estraderm (TN) Estrasorb (TN) Estring (TN) Estrogel (TN) Innofem (TN) Vagifem (TN) Vivelle (TN) CLIMARA DIVIGEL ESTRADIOL ESTRING ESTROGEL IMVEXXY MENOSTAR MINIVELLE VAGIFEM VIVELLE-DOT DOTTI ESTRACE ESTRADIOL GEL ESTRADIOL TRANSDERMAL SYSTEM ESTRADIOL VAGINAL ESTRADIOL VAGINAL CREAM LYLLANA YUVAFEM

Estradiol

[3] 13, 76, 299 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
76	Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma;
299	Cystic fibrosis;CF;

181

Breast cancer 💬

[2] ESR1, ESR2 💬

Estradiol hemihydrate 💬

Estradiol

[3] 13, 76, 299 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
76	Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma;
299	Cystic fibrosis;CF;

182

Breast cancer 💬

[2] ESR1, ESR2 💬

Estriol 💬

Estriol

[2] 13, 227 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;

183

Breast cancer 💬

[2] ESR1, ESR2 💬

Estriol tripropionate 💬

Estriol

[2] 13, 227 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;

184

Breast cancer 💬

[2] ESR1, ESR2 💬

Fulvestrant 💬

Fulvestrant

[1] 86 💬

185

Breast cancer 💬

[2] ESR1, ESR2 💬

Prasterone 💬

Prasterone

[6] 49, 53, 83, 86, 96, 113 💬

Disease ID	Name
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
83	Addison disease;Primary chronic adrenocortical insufficiency;
86	Pulmonary arterial hypertension;PAH;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
113	Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;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;

186

Breast cancer 💬

[2] ESR1, ESR2 💬

Raloxifene hydrochloride 💬

Raloxifene

[2] 46, 77 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly;

187

Breast cancer 💬

[2] ESR1, ESR2 💬

Raloxifene 💬

Raloxifene

[2] 46, 77 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly;

188

Breast cancer 💬

[2] ESR1, ESR2 💬

Tamoxifen citrate 💬

Tamoxifen

[4] 2 , 86, 113, 227 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
86	Pulmonary arterial hypertension;PAH;
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;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;

189

Breast cancer 💬

[2] ESR1, ESR2 💬

Tamoxifen 💬

Tamoxifen

[4] 2 , 86, 113, 227 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
86	Pulmonary arterial hypertension;PAH;
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;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;

190

Breast cancer 💬

[2] ESR1, PGR 💬

Danazol 💬

Danazol

[5] 60, 63, 64, 65, 285 💬

Disease ID	Name
60	Aplastic anemia;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
285	Fanconi anemia;

191

Breast cancer 💬

[2] ESR1, PGR 💬

Desogestrel 💬

Desogestrel

[1] 230 💬

192

Breast cancer 💬

[1] FGF19 💬

Aldafermin 💬

Aldafermin

[1] 94 💬

193

Breast cancer 💬

[1] FGF23 💬

Burosumab 💬

Burosumab

[1] 238 💬

Disease ID	Name
238	Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO;

194

Breast cancer 💬

[1] FGFR1 💬

Infigratinib 💬

Infigratinib

[1] 276 💬

195

Breast cancer 💬

[1] FGFR1 💬

Infigratinib phosphate 💬

Infigratinib

[1] 276 💬

196

Breast cancer 💬

[2] FGFR1, FLT4 💬

Nintedanib esylate 💬

Nintedanib

[7] 51, 84, 85, 89, 227, 228, 331 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
89	Lymphangioleiomyomatosis;LAM;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

197

Breast cancer 💬

[2] FGFR1, FLT4 💬

Nintedanib 💬

Nintedanib

[7] 51, 84, 85, 89, 227, 228, 331 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
89	Lymphangioleiomyomatosis;LAM;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

198

Breast cancer 💬

[3] FGFR1, FLT4, KIT 💬

Catequentinib 💬

Anlotinib

[1] 85 💬

Disease ID	Name
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

199

Breast cancer 💬

[1] FLT4 💬

Axitinib 💬

Axitinib

[1] 34 💬

200

Breast cancer 💬

[1] FLT4 💬

Cediranib 💬

Cediranib

[1] 34 💬

201

Breast cancer 💬

[1] FLT4 💬

Cediranib maleate 💬

Cediranib

[1] 34 💬

202

Breast cancer 💬

[2] FLT4, KIT 💬

Pazopanib hydrochloride 💬

Pazopanib

[1] 227 💬

203

Breast cancer 💬

[2] FLT4, KIT 💬

Sunitinib malate 💬

Sunitinib

[2] 28, 34 💬

Disease ID

Name

Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis;

Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;

204

Breast cancer 💬

[2] FLT4, KIT 💬

Sunitinib 💬

Sunitinib

[2] 28, 34 💬

Disease ID

Name

Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;

205

Breast cancer 💬

[1] IGF1R 💬

Linsitinib 💬

Linsitinib

[1] 232 💬

206

Breast cancer 💬

[1] IGF1R 💬

Mecasermin 💬

Mecasermin

[4] 96, 168, 265, 299 💬

Disease ID	Name
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
168	Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS;
265	Lipodystrophy;
299	Cystic fibrosis;CF;

207

Breast cancer 💬

[1] IGF1R 💬

Mecasermin rinfabate 💬

Mecasermin

[4] 96, 168, 265, 299 💬

Disease ID	Name
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
168	Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS;
265	Lipodystrophy;
299	Cystic fibrosis;CF;

208

Breast cancer 💬

[1] KIT 💬

Barzolvolimab 💬

Barzolvolimab

[1] 98 💬

Disease ID	Name
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;

209

Breast cancer 💬

[1] KIT 💬

Dasatinib 💬

Dasatinib

[2] 51, 85 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

210

Breast cancer 💬

[1] KIT 💬

Dasatinib 💬

Dasatinib

[2] 51, 85 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

211

Breast cancer 💬

[1] KIT 💬

Imatinib mesylate 💬

Imatinib

[12] 13, 28, 34, 35, 46, 51, 85, 86, 87, 88, 89, 162 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
86	Pulmonary arterial hypertension;PAH;
87	Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
89	Lymphangioleiomyomatosis;LAM;
162	Pemphigoid;

212

Breast cancer 💬

[1] KIT 💬

Imatinib 💬

Imatinib

[12] 13, 28, 34, 35, 46, 51, 85, 86, 87, 88, 89, 162 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
86	Pulmonary arterial hypertension;PAH;
87	Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
89	Lymphangioleiomyomatosis;LAM;
162	Pemphigoid;

213

Breast cancer 💬

[1] KIT 💬

Masitinib 💬

Masitinib

[6] 2 , 5 , 6 , 13, 46, 96 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

214

Breast cancer 💬

[1] KIT 💬

Nilotinib 💬

Nilotinib

[5] 6 , 8 , 34, 51, 86 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
86	Pulmonary arterial hypertension;PAH;

215

Breast cancer 💬

[2] MAP2K1, MAP2K2 💬

Binimetinib 💬

Binimetinib

[1] 34 💬

216

Breast cancer 💬

[2] MAP2K1, MAP2K2 💬

Cobimetinib 💬

Cobimetinib

[1] 280 💬

217

Breast cancer 💬

[2] MAP2K1, MAP2K2 💬

Cobimetinib fumarate 💬

Cobimetinib

[1] 280 💬

218

Breast cancer 💬

[2] MAP2K1, MAP2K2 💬

Mirdametinib 💬

Mirdametinib

[4] 34, 278, 279, 280 💬

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;

219

Breast cancer 💬

[2] MAP2K1, MAP2K2 💬

Selumetinib 💬

Selumetinib

[1] 34 💬

220

Breast cancer 💬

[2] MAP2K1, MAP2K2 💬

Selumetinib sulfate 💬

Selumetinib

[1] 34 💬

221

Breast cancer 💬

[2] MAP2K1, MAP2K2 💬

Trametinib 💬

Trametinib

[6] 2 , 34, 58, 195, 279, 280 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
58	Hypertrophic cardiomyopathy;HCM;
195	Noonan syndrome;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;

222

Breast cancer 💬

[2] MAP2K1, MAP2K2 💬

Trametinib dimethyl sulfoxide 💬

Trametinib

[6] 2 , 34, 58, 195, 279, 280 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
58	Hypertrophic cardiomyopathy;HCM;
195	Noonan syndrome;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge 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

Breast cancer 💬

[1] MTOR 💬

Everolimus 💬

Everolimus

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

224

Breast cancer 💬

[1] MTOR 💬

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 💬

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;

225

Breast cancer 💬

[1] MTOR 💬

Temsirolimus 💬

Temsirolimus

[4] 13, 34, 89, 331 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
89	Lymphangioleiomyomatosis;LAM;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

226

Breast cancer 💬

[1] PGR 💬

Dydrogesterone 💬

Dydrogesterone

[1] 13 💬

227

Breast cancer 💬

[1] PGR 💬

Levonorgestrel 💬

Levonorgestrel

[1] 13 💬

228

Breast cancer 💬

[1] PGR 💬

Medroxyprogesterone acetate 💬

Name	Other Names
Medroxyprogesterone acetate	Medroxyprogesterone acetate (JP18/USP) Depo-provera (TN) Depo-subq provera 104 (TN) Provera (TN) DEPO-PROVERA DEPO-SUBQ PROVERA PROVERA MEDROXYPROGESTERONE MEDROXYPROGESTERONE ACETATE MEDROXYPROGESTERONE ACETATE INJECTABLE SUSPENSION

Medroxyprogesterone acetate

[8] 13, 35, 46, 49, 50, 51, 60, 107 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
60	Aplastic anemia;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;

229

Breast cancer 💬

[1] PGR 💬

Megestrol 💬

Megestrol

[2] 2 , 76 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
76	Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma;

230

Breast cancer 💬

[1] PGR 💬

Megestrol acetate 💬

Megestrol acetate

[1] 76 💬

231

Breast cancer 💬

[1] PGR 💬

Mifepristone 💬

Mifepristone

[1] 75 💬

232

Breast cancer 💬

[1] PGR 💬

Nomegestrol 💬

Nomegestrol

[1] 13 💬

233

Breast cancer 💬

[1] PGR 💬

Nomegestrol acetate 💬

Nomegestrol acetate

[1] 13 💬

234

Breast cancer 💬

[1] PGR 💬

Norethindrone 💬

Norethisterone

[4] 13, 46, 49, 299 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
299	Cystic fibrosis;CF;

235

Breast cancer 💬

[1] PGR 💬

Norethindrone acetate 💬

Norethisterone

[4] 13, 46, 49, 299 💬

Disease ID	Name
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
299	Cystic fibrosis;CF;

236

Breast cancer 💬

[1] PGR 💬

Progesterone 💬

Progesterone

[2] 76, 299 💬

237

Breast cancer 💬

[1] PGR 💬

Ulipristal 💬

Ulipristal

[1] 10 💬

238

Breast cancer 💬

[1] PGR 💬

Ulipristal acetate 💬

Ulipristal

[1] 10 💬

239

Breast cancer 💬

[1] PIK3CA_B_D 💬

Alpelisib 💬

Alpelisib

[4] 138, 278, 279, 280 💬

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;

240

Breast cancer 💬

[1] PIK3CA_B_D 💬

Leniolisib phosphate 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

241

Breast cancer 💬

[1] PIK3CA_B_D 💬

Parsaclisib 💬

Parsaclisib

[3] 35, 53, 61 💬

Disease ID	Name
35	Pemphigus;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;

242

Breast cancer 💬

[2] PIK3CA_B_D, PIK3CA_B_D 💬

Copanlisib 💬

Copanlisib

[1] 121 💬

Disease ID

Name

121

243

Breast cancer 💬

[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬

Leniolisib 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

244

Breast cancer 💬

[1] TNFSF11 💬

Denosumab 💬

Denosumab

[10] 46, 50, 70, 75, 77, 93, 95, 96, 274, 299 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
50	Dermatomyositis;Polymyositis;
70	Spinal stenosis;Extensive spinal canal stenosis;
75	Cushing disease;Cushing syndrome;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
274	Osteogenesis Imperfecta;
299	Cystic fibrosis;CF;

245

Butanoate metabolism 💬

[1] ABAT 💬

Vigabatrin 💬

Vigabatrin

[2] 145, 158 💬

Disease ID	Name
145	West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;

246

Butanoate metabolism 💬

[4] ABAT, ALDH5A1, E4.1.1.15, E4.1.1.15 💬

Valproic acid 💬

Valproic acid

[13] 2 , 3 , 5 , 6 , 13, 26, 34, 65, 89, 90, 127, 222, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;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;
89	Lymphangioleiomyomatosis;LAM;
90	Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

247

Butanoate metabolism 💬

[4] ABAT, ALDH5A1, E4.1.1.15, E4.1.1.15 💬

Valproate sodium 💬

Valproic acid

[13] 2 , 3 , 5 , 6 , 13, 26, 34, 65, 89, 90, 127, 222, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;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;
89	Lymphangioleiomyomatosis;LAM;
90	Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

248

Butanoate metabolism 💬

[4] ABAT, ALDH5A1, E4.1.1.15, E4.1.1.15 💬

Divalproex sodium 💬

Valproic acid

[13] 2 , 3 , 5 , 6 , 13, 26, 34, 65, 89, 90, 127, 222, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;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;
89	Lymphangioleiomyomatosis;LAM;
90	Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;