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Gene

Search results

No.

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

Alzheimer disease 💬

[1] PSMB5 💬

Bortezomib 💬

Bortezomib

[19] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 223, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Amyotrophic lateral sclerosis 💬

[1] PSMB5 💬

Bortezomib 💬

Bortezomib

[19] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 223, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Endocrine and other factor-regulated calcium reabsorption 💬

[1] PTH1R 💬

Teriparatide acetate 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Endocrine and other factor-regulated calcium reabsorption 💬

[1] PTH1R 💬

Teriparatide 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Endocrine and other factor-regulated calcium reabsorption 💬

[1] PTH1R 💬

Teriparatide acetate 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Folate biosynthesis 💬

[1] ALPL 💬

Asfotase alfa 💬

Asfotase alfa

[1] 172 💬

Folate biosynthesis 💬

[2] DHFR, DHFR2 💬

Methotrexate 💬

Methotrexate

[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
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;Glomerulonephritis;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
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;Behçet syndrome;Silk Road disease;
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;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement 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;
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;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
240	Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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, DHFR2 💬

Methotrexate sodium 💬

Methotrexate

[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
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;Glomerulonephritis;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
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;Behçet syndrome;Silk Road disease;
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;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement 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;
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;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
240	Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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, DHFR2 💬

Methotrexate 💬

Methotrexate

[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
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;Glomerulonephritis;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
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;Behçet syndrome;Silk Road disease;
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;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement 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;
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;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
240	Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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, DHFR2 💬

Methotrexate sodium 💬

Methotrexate

[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
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;Glomerulonephritis;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
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;Behçet syndrome;Silk Road disease;
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;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement 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;
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;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
240	Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;

Hematopoietic cell lineage 💬

[1] MS4A1 💬

Rituximab 💬

Rituximab

[54] 11, 13, 14, 19, 26, 34, 35, 36, 40, 41, 42, 43, 44, 45, 46, 48, 49, 50, 51, 52, 53, 55, 56, 60, 61, 62, 63, 64, 65, 66, 83, 84, 85, 86, 88, 93, 94, 96, 97, 162, 172, 222, 223, 229, 256, 271, 274, 283, 284, 285, 288, 296, 300, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
36	Epidermolysis bullosa;Kindler syndrome;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;Glomerulonephritis;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
52	Mixed connective tissue disease;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
65	Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
83	Addison disease;Primary chronic adrenocortical insufficiency;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
86	Pulmonary arterial hypertension;PAH;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
94	Primary sclerosing cholangitis;PSC;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
162	Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
229	Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency;
296	Biliary atresia;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Hormone signaling 💬

[1] PTH1R 💬

Teriparatide acetate 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Hormone signaling 💬

[1] PTH1R 💬

Teriparatide 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Hormone signaling 💬

[1] PTH1R 💬

Teriparatide acetate 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Huntington disease 💬

[1] PSMB5 💬

Bortezomib 💬

Bortezomib

[19] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 223, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Neuroactive ligand-receptor interaction 💬

[1] PTH1R 💬

Teriparatide acetate 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Neuroactive ligand-receptor interaction 💬

[1] PTH1R 💬

Teriparatide 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Neuroactive ligand-receptor interaction 💬

[1] PTH1R 💬

Teriparatide acetate 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

One carbon pool by folate 💬

[2] DHFR, DHFR2 💬

Methotrexate 💬

Methotrexate

[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
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;Glomerulonephritis;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
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;Behçet syndrome;Silk Road disease;
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;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement 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;
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;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
240	Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;

One carbon pool by folate 💬

[2] DHFR, DHFR2 💬

Methotrexate sodium 💬

Methotrexate

[41] 11, 13, 14, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 54, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 223, 240, 256, 270, 271, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
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;Glomerulonephritis;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
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;Behçet syndrome;Silk Road disease;
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;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement 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;
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;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
172	Hypophosphatasia;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
240	Phenylketonuria;PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;

Parathyroid hormone synthesis, secretion and action 💬

[1] PTH1R 💬

Teriparatide acetate 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Parathyroid hormone synthesis, secretion and action 💬

[1] PTH1R 💬

Teriparatide 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Parathyroid hormone synthesis, secretion and action 💬

[1] PTH1R 💬

Teriparatide acetate 💬

Teriparatide

[7] 46, 68, 70, 71, 172, 235, 274 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;Ossified ligamentum flavum;OLF;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;Osteonecrosis of the femoral head;
172	Hypophosphatasia;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
274	Osteogenesis Imperfecta;

Parkinson disease 💬

[1] PSMB5 💬

Bortezomib 💬

Bortezomib

[19] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 223, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Pathways of neurodegeneration - multiple diseases 💬

[1] PSMB5 💬

Bortezomib 💬

Bortezomib

[19] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 223, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Phagocytosis 💬

[1] ALPL 💬

Asfotase alfa 💬

Asfotase alfa

[1] 172 💬

Prion disease 💬

[1] PSMB5 💬

Bortezomib 💬

Bortezomib

[19] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 223, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Proteasome 💬

[1] PSMB5 💬

Bortezomib 💬

Bortezomib

[19] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 223, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Spinocerebellar ataxia 💬

[1] PSMB5 💬

Bortezomib 💬

Bortezomib

[19] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 223, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
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;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;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;Tarui syndrome;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;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Thiamine metabolism 💬

[1] ALPL 💬

Asfotase alfa 💬

Asfotase alfa

[1] 172 💬