Gene

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

African trypanosomiasis 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

African trypanosomiasis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

AGE-RAGE signaling pathway in diabetic complications 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

AGE-RAGE signaling pathway in diabetic complications 💬

[1] JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Alcoholic liver disease 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Allograft rejection 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Alzheimer disease 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Alzheimer disease 💬

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

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

[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;

Amoebiasis 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Amoebiasis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Amoebiasis 💬

[2] IL1R1, IL1R2 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

Amphetamine addiction 💬

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

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

[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;

Amyotrophic lateral sclerosis 💬

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

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

[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;

Antigen processing and presentation 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Axon guidance 💬

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

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

[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 💬

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

[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;

C-type lectin receptor signaling pathway 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

C-type lectin receptor signaling pathway 💬

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

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

[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;

Calcium signaling pathway 💬

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

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

[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;

Cellular senescence 💬

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

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

[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;

cGMP-PKG signaling pathway 💬

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

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

[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;

Chagas disease 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Chagas disease 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Chemical carcinogenesis - receptor activation 💬

[1] JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Chemokine signaling pathway 💬

[1] JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Cholinergic synapse 💬

[1] JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Coronavirus disease - COVID-19 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Coronavirus disease - COVID-19 💬

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Coronavirus disease - COVID-19 💬

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

[2] IL1R1, IL1R2 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Cytosolic DNA-sensing pathway 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Dopaminergic synapse 💬

[3] PPP3C, PPP3C, PPP3C 💬

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

[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;

Efferocytosis 💬

[1] JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Epstein-Barr virus infection 💬

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Fluid shear stress and atherosclerosis 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Fluid shear stress and atherosclerosis 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Fluid shear stress and atherosclerosis 💬

[2] IL1R1, IL1R2 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

Folate biosynthesis 💬

[2] DHFR, DHFR 💬

Methotrexate sodium 💬

[39] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 85, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
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;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
326	Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Folate biosynthesis 💬

[2] DHFR, DHFR 💬

Methotrexate 💬

[39] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 85, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
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;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
326	Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Folate transport and metabolism 💬

[2] DHFR, DHFR 💬

Methotrexate 💬

[39] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 85, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
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;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
326	Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Folate transport and metabolism 💬

[2] DHFR, DHFR 💬

Methotrexate sodium 💬

[39] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 85, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
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;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
326	Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Glucagon signaling pathway 💬

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

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

[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;

Glutamatergic synapse 💬

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

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

[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;

Graft-versus-host disease 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Graft-versus-host disease 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Growth hormone synthesis, secretion and action 💬

[1] JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Hematopoietic cell lineage 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Hematopoietic cell lineage 💬

[2] IL1R1, IL1R2 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

Hematopoietic cell lineage 💬

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Hepatitis B 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Hepatitis C 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Hepatitis C 💬

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Herpes simplex virus 1 infection 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Herpes simplex virus 1 infection 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Herpes simplex virus 1 infection 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

HIF-1 signaling pathway 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

HIF-1 signaling pathway 💬

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Hormone signaling 💬

[1] JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

[1] IL1R1 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

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

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

[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;

Human immunodeficiency virus 1 infection 💬

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

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

[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;

Human papillomavirus infection 💬

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Human T-cell leukemia virus 1 infection 💬

[2] IL1R1, IL1R2 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

Human T-cell leukemia virus 1 infection 💬

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Human T-cell leukemia virus 1 infection 💬

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

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

[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;

IL-17 signaling pathway 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

IL-17 signaling pathway 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Inflammatory bowel disease 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Inflammatory bowel disease 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Inflammatory mediator regulation of TRP channels 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Inflammatory mediator regulation of TRP channels 💬

[1] IL1R1 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

Influenza A 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Influenza A 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Influenza A 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

JAK-STAT signaling pathway 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

JAK-STAT signaling pathway 💬

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

JAK-STAT signaling pathway 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Kaposi sarcoma-associated herpesvirus infection 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Kaposi sarcoma-associated herpesvirus infection 💬

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

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

[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;

Legionellosis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Leishmaniasis 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Leishmaniasis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Leishmaniasis 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Lipid and atherosclerosis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

Lipid and atherosclerosis 💬

[1] JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Lipid and atherosclerosis 💬

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

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

[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;

Long-term potentiation 💬

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

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

[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;

Malaria 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

Malaria 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

MAPK signaling pathway 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

MAPK signaling pathway 💬

[1] IL1R1 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

MAPK signaling pathway 💬

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

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

[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;

100

Measles 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

101

Measles 💬

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

102

Natural killer cell mediated cytotoxicity 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

103

Natural killer cell mediated cytotoxicity 💬

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

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

[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;

104

Necroptosis 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

105

Necroptosis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

106

Necroptosis 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

107

Neuroactive ligand-receptor interaction 💬

[1] NR3C1 💬

Prednisolone 💬

Prednisolone

[41] 3 , 11, 13, 14, 18, 25, 26, 38, 39, 40, 41, 43, 44, 45, 46, 49, 50, 51, 54, 56, 60, 61, 63, 64, 66, 81, 84, 85, 95, 96, 97, 113, 145, 162, 222, 251, 269, 271, 296, 299, 300 💬

Disease ID	Name
3	Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy;
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;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
39	Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
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;
145	West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
162	Pemphigoid;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
251	Urea cycle disorder;N-acetylglutamate synthase deficiency;NAGS deficiency;Carbamoyl phosphate synthetase I deficiency;CPS1 deficiency;Ornithine transcarbamylase deficiency;OTC deficiency;Classic citrullinemia;Citrullinemia type I;Argininosuccinic aciduria;Argininemia;Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome;HHH syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
296	Biliary atresia;
299	Cystic fibrosis;CF;
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;

108

NF-kappa B signaling pathway 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

109

NF-kappa B signaling pathway 💬

[1] IL1R1 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

110

NOD-like receptor signaling pathway 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

111

NOD-like receptor signaling pathway 💬

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

112

Non-alcoholic fatty liver disease 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

113

Non-alcoholic fatty liver disease 💬

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

114

One carbon pool by folate 💬

[2] DHFR, DHFR 💬

Methotrexate 💬

[39] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 85, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
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;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
326	Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

115

One carbon pool by folate 💬

[2] DHFR, DHFR 💬

Methotrexate sodium 💬

[39] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 85, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
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;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
326	Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

116

Oocyte meiosis 💬

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

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

[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;

117

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

Disease ID	Name
49	Systemic lupus erythematosus;SLE;
54	Adult still disease;Adult-onset Still's disease;
60	Aplastic anemia;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;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;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;

118

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

119

[1] IL1R1 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

120

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

121

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

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

[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;

122

Oxytocin signaling pathway 💬

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

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

[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;

123

Pancreatic cancer 💬

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

124

Pathogenic Escherichia coli infection 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

125

Pathogenic Escherichia coli infection 💬

[1] IL1R1 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

126

Pathways in cancer 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

127

Pathways in cancer 💬

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

128

Pathways in cancer 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

129

Pathways of neurodegeneration - multiple diseases 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

130

Pathways of neurodegeneration - multiple diseases 💬

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

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

PD-L1 expression and PD-1 checkpoint pathway in cancer 💬

[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;

131

[1] IFNG 💬

Emapalumab 💬

PD-L1 expression and PD-1 checkpoint pathway in cancer 💬

[5] 49, 54, 60, 65, 107 💬

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

132

[2] JAK1, JAK2 💬

Baricitinib 💬

PD-L1 expression and PD-1 checkpoint pathway in cancer 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

133

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

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

[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;

134

Pertussis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

135

PI3K-Akt signaling pathway 💬

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

136

PI3K-Akt signaling pathway 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

137

Prion disease 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

138

Prion disease 💬

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

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

[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;

139

Prolactin signaling pathway 💬

[1] JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

140

Prostate cancer 💬

[1] IL1R2 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

141

Proteasome 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

142

Pyrimidine metabolism 💬

[1] DHODH 💬

Leflunomide 💬

Leflunomide

[13] 11, 40, 46, 49, 53, 54, 66, 107, 162, 224, 270, 271, 300 💬

Disease ID	Name
11	Myasthenia gravis;MG;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
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;
54	Adult still disease;Adult-onset Still's disease;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
162	Pemphigoid;
224	Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN;
270	Chronic recurrent multifocal osteomyelitis;
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;

143

Renin secretion 💬

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

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

[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;

144

Rheumatoid arthritis 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

145

Rheumatoid arthritis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

146

Salmonella infection 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

147

Shigellosis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

148

Shigellosis 💬

[1] IL1R1 💬

Anakinra 💬

Signaling pathways regulating pluripotency of stem cells 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

149

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

150

Systemic lupus erythematosus 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

151

T cell receptor signaling pathway 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

152

T cell receptor signaling pathway 💬

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

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

[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;

153

TGF-beta signaling pathway 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

154

Th1 and Th2 cell differentiation 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

155

Th1 and Th2 cell differentiation 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

156

Th1 and Th2 cell differentiation 💬

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

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

[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;

157

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

158

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

159

[1] IL1R1 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

160

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

161

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

162

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

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

[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;

163

TNF signaling pathway 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

164

Toll-like receptor signaling pathway 💬

[1] IL1B 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

165

Toll-like receptor signaling pathway 💬

[1] JAK1 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

166

Toxoplasmosis 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

167

Toxoplasmosis 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

168

Transcriptional misregulation in cancer 💬

[1] IL1R2 💬

Anakinra 💬

[19] 2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 84, 86, 97, 106, 107, 266, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease 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;
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;
37	Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
266	Familial mediterranean fever;
299	Cystic fibrosis;CF;

169

Tuberculosis 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

170

Tuberculosis 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

171

Tuberculosis 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

172

Tuberculosis 💬

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

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

[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;

173

Type I diabetes mellitus 💬

[1] IFNG 💬

Emapalumab 💬

[5] 49, 54, 60, 65, 107 💬

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

174

Type I diabetes mellitus 💬

[1] IL1B 💬

Canakinumab 💬

[11] 46, 54, 56, 84, 106, 107, 108, 113, 266, 267, 269 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;
84	Sarcoidosis;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID;
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;
108	TNF receptor-associated periodic syndrome;
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;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;HIDS;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;

175

VEGF signaling pathway 💬

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

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

[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;

176

Viral carcinogenesis 💬

[1] JAK1 💬

Baricitinib 💬

Viral protein interaction with cytokine and cytokine receptor 💬

[21] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
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;
54	Adult still disease;Adult-onset Still's disease;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
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;
135	Aicardi syndrome;
162	Pemphigoid;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA 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;
325	Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

177

[1] IL6R 💬

Name	Other Names
Tocilizumab	Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE

[24] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
86	Pulmonary arterial hypertension;PAH;
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;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

178

Wnt signaling pathway 💬

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

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

[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;

179

Yersinia infection 💬

[1] IL1B 💬

Canakinumab 💬