Target Gene/Pathway Pathway / Gene

---

Search results

---

No.	KEGG PATHWAY On map, Yellow: Drug target, Red: All disease-related	KEGG GENES	KEGG DRUG	DrugBank	Disease ID
1	Adherens junction 💬	[1] IGF1R 💬 Adherens junction × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Adherens junction × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 1. Adherens junction × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
2	Adherens junction 💬	[1] IGF1R 💬 Adherens junction × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Adherens junction × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 1. Adherens junction × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
3	Adipocytokine signaling pathway 💬	[1] JAK2 💬 Adipocytokine signaling pathway × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 Adipocytokine signaling pathway × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 3. Adipocytokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
4	Adipocytokine signaling pathway 💬	[1] LEPR 💬 Adipocytokine signaling pathway × Name Full Name LEPR leptin receptor	Metreleptin 💬 Adipocytokine signaling pathway × Name Other Names Metreleptin Metreleptin (USAN/INN) Mettreleptin (genetical recombination) (JAN) Metreleptin (TN) Myalept (TN) MYALEPT	Metreleptin	[1] 265 💬 4. Adipocytokine signaling pathway × Disease ID Name 265 Lipodystrophy;
5	Adipocytokine signaling pathway 💬	[1] NR1C1 💬 Adipocytokine signaling pathway × Name Full Name NR1C1	Fenofibrate 💬 Adipocytokine signaling pathway × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 5. Adipocytokine signaling pathway × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
6	Adipocytokine signaling pathway 💬	[2] PRKAA, PRKAA 💬 Adipocytokine signaling pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Adipocytokine signaling pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 6. Adipocytokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
7	Adipocytokine signaling pathway 💬	[2] PRKAA, PRKAA 💬 Adipocytokine signaling pathway × Name Full Name PRKAA PRKAA	Metformin 💬 Adipocytokine signaling pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 6. Adipocytokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
8	AGE-RAGE signaling pathway in diabetic complications 💬	[1] JAK2 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 8. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
9	Alcoholic liver disease 💬	[1] NR1C1 💬 Alcoholic liver disease × Name Full Name NR1C1	Fenofibrate 💬 Alcoholic liver disease × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 9. Alcoholic liver disease × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
10	Alcoholic liver disease 💬	[2] PRKAA, PRKAA 💬 Alcoholic liver disease × Name Full Name PRKAA PRKAA	Metformin 💬 Alcoholic liver disease × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 10. Alcoholic liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
11	Alcoholic liver disease 💬	[2] PRKAA, PRKAA 💬 Alcoholic liver disease × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Alcoholic liver disease × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 10. Alcoholic liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
12	Alcoholism 💬	[1] ADORA2A 💬 Alcoholism × Name Full Name ADORA2A adenosine A2a receptor	Caffeine 💬 Alcoholism × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 12. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
13	Alcoholism 💬	[1] ADORA2A 💬 Alcoholism × Name Full Name ADORA2A adenosine A2a receptor	Caffeine hydrate 💬 Alcoholism × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 12. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
14	Alcoholism 💬	[1] ADORA2A 💬 Alcoholism × Name Full Name ADORA2A adenosine A2a receptor	Caffeine citrate 💬 Alcoholism × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 12. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
15	Aldosterone synthesis and secretion 💬	[1] PDE2A 💬 Aldosterone synthesis and secretion × Name Full Name PDE2A phosphodiesterase 2A	Caffeine 💬 Aldosterone synthesis and secretion × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 15. Aldosterone synthesis and secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
16	Aldosterone synthesis and secretion 💬	[1] PDE2A 💬 Aldosterone synthesis and secretion × Name Full Name PDE2A phosphodiesterase 2A	Caffeine hydrate 💬 Aldosterone synthesis and secretion × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 15. Aldosterone synthesis and secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
17	Aldosterone synthesis and secretion 💬	[1] PDE2A 💬 Aldosterone synthesis and secretion × Name Full Name PDE2A phosphodiesterase 2A	Caffeine citrate 💬 Aldosterone synthesis and secretion × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 15. Aldosterone synthesis and secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
18	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin calcium 💬 AMPK signaling pathway × Name Other Names Atorvastatin calcium Atorvastatin calcium (USP) Atorvastatin calcium hydrate (JP18) Atorvastatin calcium trihydrate Atorvaliq (TN) Lipitor (TN) ATORVALIQ LIPITOR ATORVASTATIN CALCIUM	Atorvastatin	[20] 13, 22, 46, 49, 51, 58, 63, 67, 79, 84, 88, 93, 96, 97, 160, 225, 265, 271, 297, 299 💬 18. AMPK signaling pathway × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 58 Hypertrophic cardiomyopathy;HCM; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 84 Sarcoidosis; 88 Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 297 Alagille syndrome; 299 Cystic fibrosis;CF;
19	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin 💬 AMPK signaling pathway × Name Other Names Atorvastatin Atorvastatin (INN) Lipitor (TN) Sortis (TN)	Atorvastatin	[20] 13, 22, 46, 49, 51, 58, 63, 67, 79, 84, 88, 93, 96, 97, 160, 225, 265, 271, 297, 299 💬 18. AMPK signaling pathway × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 58 Hypertrophic cardiomyopathy;HCM; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 84 Sarcoidosis; 88 Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 297 Alagille syndrome; 299 Cystic fibrosis;CF;
20	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Pravastatin sodium 💬 AMPK signaling pathway × Name Other Names Pravastatin sodium Pravastatin sodium (JP18/USP) CS-514 Pravachol (TN)	Pravastatin	[10] 13, 46, 49, 67, 79, 96, 164, 210, 265, 333 💬 20. AMPK signaling pathway × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 265 Lipodystrophy; 333 Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;
21	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Pravastatin 💬 AMPK signaling pathway × Name Other Names Pravastatin Pravastatin (INN) Pravator (TN)	Pravastatin	[10] 13, 46, 49, 67, 79, 96, 164, 210, 265, 333 💬 20. AMPK signaling pathway × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 265 Lipodystrophy; 333 Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;
22	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Simvastatin 💬 AMPK signaling pathway × Name Other Names Simvastatin Simvastatin (JP18/USP/INN) MK-733 Zocor (TN) FLOLIPID ZOCOR SIMVASTATIN	Simvastatin	[21]  6 , 13, 15, 34, 46, 49, 51, 66, 79, 86, 89, 94, 158, 160, 162, 195, 265, 288, 298, 299, 310 💬 22. AMPK signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 94 Primary sclerosing cholangitis;PSC; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 162 Pemphigoid; 195 Noonan syndrome; 265 Lipodystrophy; 288 Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Factor XIII deficiency;Factor VIII deficiency;Acquired hemophilia A;VWF deficiency;von Willebrand Disease;VWD;Factor V deficiency;Factor X deficiency; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 310 Congenital anomalies syndrome;Partial trisomy 1q syndrome;Trisomy 1q;9q34 deletion syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;
23	AMPK signaling pathway 💬	[1] IGF1R 💬 AMPK signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 AMPK signaling pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 23. AMPK signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
24	AMPK signaling pathway 💬	[1] IGF1R 💬 AMPK signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 AMPK signaling pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 23. AMPK signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
25	AMPK signaling pathway 💬	[1] LEPR 💬 AMPK signaling pathway × Name Full Name LEPR leptin receptor	Metreleptin 💬 AMPK signaling pathway × Name Other Names Metreleptin Metreleptin (USAN/INN) Mettreleptin (genetical recombination) (JAN) Metreleptin (TN) Myalept (TN) MYALEPT	Metreleptin	[1] 265 💬 25. AMPK signaling pathway × Disease ID Name 265 Lipodystrophy;
26	AMPK signaling pathway 💬	[1] NR1C3 💬 AMPK signaling pathway × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 AMPK signaling pathway × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 26. AMPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
27	AMPK signaling pathway 💬	[1] NR1C3 💬 AMPK signaling pathway × Name Full Name NR1C3	Pioglitazone 💬 AMPK signaling pathway × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 26. AMPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
28	AMPK signaling pathway 💬	[1] NR1C3 💬 AMPK signaling pathway × Name Full Name NR1C3	Rosiglitazone maleate 💬 AMPK signaling pathway × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 28. AMPK signaling pathway × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
29	AMPK signaling pathway 💬	[1] NR1C3 💬 AMPK signaling pathway × Name Full Name NR1C3	Rosiglitazone 💬 AMPK signaling pathway × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 28. AMPK signaling pathway × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
30	AMPK signaling pathway 💬	[2] PRKAA, PRKAA 💬 AMPK signaling pathway × Name Full Name PRKAA PRKAA	Metformin 💬 AMPK signaling pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 30. AMPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
31	AMPK signaling pathway 💬	[2] PRKAA, PRKAA 💬 AMPK signaling pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 AMPK signaling pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 30. AMPK signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
32	Apelin signaling pathway 💬	[1] PDE3B 💬 Apelin signaling pathway × Name Full Name PDE3B phosphodiesterase 3B	Caffeine 💬 Apelin signaling pathway × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 32. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
33	Apelin signaling pathway 💬	[1] PDE3B 💬 Apelin signaling pathway × Name Full Name PDE3B phosphodiesterase 3B	Caffeine hydrate 💬 Apelin signaling pathway × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 32. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
34	Apelin signaling pathway 💬	[1] PDE3B 💬 Apelin signaling pathway × Name Full Name PDE3B phosphodiesterase 3B	Caffeine citrate 💬 Apelin signaling pathway × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 32. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
35	Apelin signaling pathway 💬	[2] PRKAA, PRKAA 💬 Apelin signaling pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Apelin signaling pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 35. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
36	Apelin signaling pathway 💬	[2] PRKAA, PRKAA 💬 Apelin signaling pathway × Name Full Name PRKAA PRKAA	Metformin 💬 Apelin signaling pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 35. Apelin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
37	Autophagy - animal 💬	[1] IGF1R 💬 Autophagy - animal × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Autophagy - animal × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 37. Autophagy - animal × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
38	Autophagy - animal 💬	[1] IGF1R 💬 Autophagy - animal × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Autophagy - animal × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 37. Autophagy - animal × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
39	Autophagy - animal 💬	[2] PRKAA, PRKAA 💬 Autophagy - animal × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Autophagy - animal × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 39. Autophagy - animal × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
40	Autophagy - animal 💬	[2] PRKAA, PRKAA 💬 Autophagy - animal × Name Full Name PRKAA PRKAA	Metformin 💬 Autophagy - animal × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 39. Autophagy - animal × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
41	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin calcium 💬 Bile secretion × Name Other Names Atorvastatin calcium Atorvastatin calcium (USP) Atorvastatin calcium hydrate (JP18) Atorvastatin calcium trihydrate Atorvaliq (TN) Lipitor (TN) ATORVALIQ LIPITOR ATORVASTATIN CALCIUM	Atorvastatin	[20] 13, 22, 46, 49, 51, 58, 63, 67, 79, 84, 88, 93, 96, 97, 160, 225, 265, 271, 297, 299 💬 41. Bile secretion × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 58 Hypertrophic cardiomyopathy;HCM; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 84 Sarcoidosis; 88 Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 297 Alagille syndrome; 299 Cystic fibrosis;CF;
42	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin 💬 Bile secretion × Name Other Names Atorvastatin Atorvastatin (INN) Lipitor (TN) Sortis (TN)	Atorvastatin	[20] 13, 22, 46, 49, 51, 58, 63, 67, 79, 84, 88, 93, 96, 97, 160, 225, 265, 271, 297, 299 💬 41. Bile secretion × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 58 Hypertrophic cardiomyopathy;HCM; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 84 Sarcoidosis; 88 Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 297 Alagille syndrome; 299 Cystic fibrosis;CF;
43	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Pravastatin sodium 💬 Bile secretion × Name Other Names Pravastatin sodium Pravastatin sodium (JP18/USP) CS-514 Pravachol (TN)	Pravastatin	[10] 13, 46, 49, 67, 79, 96, 164, 210, 265, 333 💬 43. Bile secretion × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 265 Lipodystrophy; 333 Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;
44	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Pravastatin 💬 Bile secretion × Name Other Names Pravastatin Pravastatin (INN) Pravator (TN)	Pravastatin	[10] 13, 46, 49, 67, 79, 96, 164, 210, 265, 333 💬 43. Bile secretion × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 265 Lipodystrophy; 333 Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;
45	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Simvastatin 💬 Bile secretion × Name Other Names Simvastatin Simvastatin (JP18/USP/INN) MK-733 Zocor (TN) FLOLIPID ZOCOR SIMVASTATIN	Simvastatin	[21]  6 , 13, 15, 34, 46, 49, 51, 66, 79, 86, 89, 94, 158, 160, 162, 195, 265, 288, 298, 299, 310 💬 45. Bile secretion × Disease ID Name  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 94 Primary sclerosing cholangitis;PSC; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 162 Pemphigoid; 195 Noonan syndrome; 265 Lipodystrophy; 288 Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Factor XIII deficiency;Factor VIII deficiency;Acquired hemophilia A;VWF deficiency;von Willebrand Disease;VWD;Factor V deficiency;Factor X deficiency; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 310 Congenital anomalies syndrome;Partial trisomy 1q syndrome;Trisomy 1q;9q34 deletion syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;
46	Bile secretion 💬	[1] NR1H4 💬 Bile secretion × Name Full Name NR1H4 nuclear receptor subfamily 1 group H member 4	Cholic acid 💬 Bile secretion × Name Other Names Cholic acid Cholic acid (JAN/USAN) Cholbam (TN) CHOLBAM	Cholic Acid	[4] 20, 234, 265, 310 💬 46. Bile secretion × Disease ID Name 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 234 Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;Peroxisome biogenesis disorder;PBD;PEX gene disorder;Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease;Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;Peroxisomal beta-oxidation enzyme deficiency;Acyl-CoA oxidase deficiency;AOX deficiency;D-Bifunctional protein deficiency;DBP deficiency;Sterol carrier protein X deficiency;SCPx deficiency;2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;Plasmalogen biosynthesis enzyme deficiency;Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;Refsum disease;Primary hyperoxaluria type 1;PH1;Primary hyperoxaluria;Acatalasemia;Acatalasia;Takahara disease; 265 Lipodystrophy; 310 Congenital anomalies syndrome;Partial trisomy 1q syndrome;Trisomy 1q;9q34 deletion syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;
47	Bile secretion 💬	[1] NR1H4 💬 Bile secretion × Name Full Name NR1H4 nuclear receptor subfamily 1 group H member 4	Obeticholic acid 💬 Bile secretion × Name Other Names Obeticholic acid Obeticholic acid (JAN/USAN/INN) Ocaliva (TN) OCALIVA	Obeticholic acid	[3] 93, 265, 296 💬 47. Bile secretion × Disease ID Name 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 265 Lipodystrophy; 296 Biliary atresia;
48	Breast cancer 💬	[1] IGF1R 💬 Breast cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Breast cancer × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 48. Breast cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
49	Breast cancer 💬	[1] IGF1R 💬 Breast cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Breast cancer × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 48. Breast cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
50	Calcium signaling pathway 💬	[2] ADORA2A, PDE1 💬 Calcium signaling pathway × Name Full Name ADORA2A adenosine A2a receptor PDE1	Caffeine 💬 Calcium signaling pathway × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 50. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
51	Calcium signaling pathway 💬	[2] ADORA2A, PDE1 💬 Calcium signaling pathway × Name Full Name ADORA2A adenosine A2a receptor PDE1	Caffeine hydrate 💬 Calcium signaling pathway × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 50. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
52	Calcium signaling pathway 💬	[2] ADORA2A, PDE1 💬 Calcium signaling pathway × Name Full Name ADORA2A adenosine A2a receptor PDE1	Caffeine citrate 💬 Calcium signaling pathway × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 50. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
53	cAMP signaling pathway 💬	[8] ADORA1, ADORA2A, PDE3A, PDE3B, PDE4, PDE4, PDE4, PDE4 💬 cAMP signaling pathway × Name Full Name ADORA1 adenosine A1 receptor ADORA2A adenosine A2a receptor PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE4 PDE4 PDE4 PDE4	Caffeine 💬 cAMP signaling pathway × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 53. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
54	cAMP signaling pathway 💬	[8] ADORA1, ADORA2A, PDE3A, PDE3B, PDE4, PDE4, PDE4, PDE4 💬 cAMP signaling pathway × Name Full Name ADORA1 adenosine A1 receptor ADORA2A adenosine A2a receptor PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE4 PDE4 PDE4 PDE4	Caffeine citrate 💬 cAMP signaling pathway × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 53. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
55	cAMP signaling pathway 💬	[8] ADORA1, ADORA2A, PDE3A, PDE3B, PDE4, PDE4, PDE4, PDE4 💬 cAMP signaling pathway × Name Full Name ADORA1 adenosine A1 receptor ADORA2A adenosine A2a receptor PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE4 PDE4 PDE4 PDE4	Caffeine hydrate 💬 cAMP signaling pathway × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 53. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
56	cAMP signaling pathway 💬	[1] NR1C1 💬 cAMP signaling pathway × Name Full Name NR1C1	Fenofibrate 💬 cAMP signaling pathway × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 56. cAMP signaling pathway × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
57	cGMP-PKG signaling pathway 💬	[5] ADORA1, PDE2A, PDE3A, PDE3B, PDE5 💬 cGMP-PKG signaling pathway × Name Full Name ADORA1 adenosine A1 receptor PDE2A phosphodiesterase 2A PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE5	Caffeine 💬 cGMP-PKG signaling pathway × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 57. cGMP-PKG signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
58	cGMP-PKG signaling pathway 💬	[5] ADORA1, PDE2A, PDE3A, PDE3B, PDE5 💬 cGMP-PKG signaling pathway × Name Full Name ADORA1 adenosine A1 receptor PDE2A phosphodiesterase 2A PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE5	Caffeine hydrate 💬 cGMP-PKG signaling pathway × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 57. cGMP-PKG signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
59	cGMP-PKG signaling pathway 💬	[5] ADORA1, PDE2A, PDE3A, PDE3B, PDE5 💬 cGMP-PKG signaling pathway × Name Full Name ADORA1 adenosine A1 receptor PDE2A phosphodiesterase 2A PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE5	Caffeine citrate 💬 cGMP-PKG signaling pathway × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 57. cGMP-PKG signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
60	Chemical carcinogenesis - receptor activation 💬	[1] AR 💬 Chemical carcinogenesis - receptor activation × Name Full Name AR androgen receptor	Testosterone 💬 Chemical carcinogenesis - receptor activation × Name Other Names Testosterone Testosterone (JAN/USP) Androderm (TN) Androgel (TN) Axiron (TN) Striant (TN) Testim (TN) ANDROGEL NATESTO TESTIM VOGELXO TESTOPEL TESTOSTERONE TESTOSTERONE GEL, 1%	Testosterone	[9]  1 ,  2 ,  3 , 13, 60, 76, 78, 113, 265 💬 60. Chemical carcinogenesis - receptor activation × Disease ID Name  1  Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 60 Aplastic anemia; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 265 Lipodystrophy;
61	Chemical carcinogenesis - receptor activation 💬	[1] JAK2 💬 Chemical carcinogenesis - receptor activation × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 61. Chemical carcinogenesis - receptor activation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
62	Chemical carcinogenesis - receptor activation 💬	[1] NR1C1 💬 Chemical carcinogenesis - receptor activation × Name Full Name NR1C1	Fenofibrate 💬 Chemical carcinogenesis - receptor activation × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 62. Chemical carcinogenesis - receptor activation × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
63	Chemokine signaling pathway 💬	[1] JAK2 💬 Chemokine signaling pathway × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 Chemokine signaling pathway × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 63. Chemokine signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
64	Cholesterol metabolism 💬	[1] APOC3 💬 Cholesterol metabolism × Name Full Name APOC3 apolipoprotein C3	Volanesorsen 💬 Cholesterol metabolism × Name Other Names Volanesorsen Volanesorsen (USAN/INN) Waylivra (TN)	Volanesorsen	[1] 265 💬 64. Cholesterol metabolism × Disease ID Name 265 Lipodystrophy;
65	Cholesterol metabolism 💬	[1] APOC3 💬 Cholesterol metabolism × Name Full Name APOC3 apolipoprotein C3	Volanesorsen sodium 💬 Cholesterol metabolism × Name Other Names Volanesorsen sodium Volanesorsen sodium (USAN) Waylivra (TN)	Volanesorsen	[1] 265 💬 64. Cholesterol metabolism × Disease ID Name 265 Lipodystrophy;
66	Cholinergic synapse 💬	[1] JAK2 💬 Cholinergic synapse × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 Cholinergic synapse × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 66. Cholinergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
67	Circadian entrainment 💬	[2] MTNR1A, MTNR1B 💬 Circadian entrainment × Name Full Name MTNR1A melatonin receptor 1A MTNR1B melatonin receptor 1B	Melatonin 💬 Circadian entrainment × Name Other Names Melatonin Melatonin (JAN) Melatonina (TN) Melatobel (TN)	Melatonin	[17]  2 ,  6 ,  8 , 13, 37, 46, 49, 72, 78, 86, 90, 96, 97, 145, 149, 202, 265 💬 67. Circadian entrainment × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 86 Pulmonary arterial hypertension;PAH; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
68	Circadian rhythm 💬	[2] PRKAA, PRKAA 💬 Circadian rhythm × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Circadian rhythm × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 68. Circadian rhythm × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
69	Circadian rhythm 💬	[2] PRKAA, PRKAA 💬 Circadian rhythm × Name Full Name PRKAA PRKAA	Metformin 💬 Circadian rhythm × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 68. Circadian rhythm × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
70	Coronavirus disease - COVID-19 💬	[1] JAK1 💬 Coronavirus disease - COVID-19 × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Coronavirus disease - COVID-19 × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 70. Coronavirus disease - COVID-19 × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
71	Cytokine-cytokine receptor interaction 💬	[1] GHR 💬 Cytokine-cytokine receptor interaction × Name Full Name GHR growth hormone receptor	Mecasermin 💬 Cytokine-cytokine receptor interaction × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 71. Cytokine-cytokine receptor interaction × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
72	Cytokine-cytokine receptor interaction 💬	[1] GHR 💬 Cytokine-cytokine receptor interaction × Name Full Name GHR growth hormone receptor	Mecasermin rinfabate 💬 Cytokine-cytokine receptor interaction × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 71. Cytokine-cytokine receptor interaction × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
73	Cytokine-cytokine receptor interaction 💬	[1] GHR 💬 Cytokine-cytokine receptor interaction × Name Full Name GHR growth hormone receptor	Pegvisomant 💬 Cytokine-cytokine receptor interaction × Name Other Names Pegvisomant Pegvisomant (USAN/INN) Pegvisomant (genetical recombination) (JAN) Somavert (TN) SOMAVERT	Pegvisomant	[2] 77, 265 💬 73. Cytokine-cytokine receptor interaction × Disease ID Name 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 265 Lipodystrophy;
74	Cytokine-cytokine receptor interaction 💬	[1] GHR 💬 Cytokine-cytokine receptor interaction × Name Full Name GHR growth hormone receptor	Somatropin 💬 Cytokine-cytokine receptor interaction × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 74. Cytokine-cytokine receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
75	Cytokine-cytokine receptor interaction 💬	[1] LEPR 💬 Cytokine-cytokine receptor interaction × Name Full Name LEPR leptin receptor	Metreleptin 💬 Cytokine-cytokine receptor interaction × Name Other Names Metreleptin Metreleptin (USAN/INN) Mettreleptin (genetical recombination) (JAN) Metreleptin (TN) Myalept (TN) MYALEPT	Metreleptin	[1] 265 💬 75. Cytokine-cytokine receptor interaction × Disease ID Name 265 Lipodystrophy;
76	Diabetic cardiomyopathy 💬	[1] NR1C1 💬 Diabetic cardiomyopathy × Name Full Name NR1C1	Fenofibrate 💬 Diabetic cardiomyopathy × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 76. Diabetic cardiomyopathy × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
77	Efferocytosis 💬	[1] JAK2 💬 Efferocytosis × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 Efferocytosis × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 77. Efferocytosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
78	Efferocytosis 💬	[1] NR1C3 💬 Efferocytosis × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Efferocytosis × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 78. Efferocytosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
79	Efferocytosis 💬	[1] NR1C3 💬 Efferocytosis × Name Full Name NR1C3	Pioglitazone 💬 Efferocytosis × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 78. Efferocytosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
80	Efferocytosis 💬	[1] NR1C3 💬 Efferocytosis × Name Full Name NR1C3	Rosiglitazone maleate 💬 Efferocytosis × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 80. Efferocytosis × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
81	Efferocytosis 💬	[1] NR1C3 💬 Efferocytosis × Name Full Name NR1C3	Rosiglitazone 💬 Efferocytosis × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 80. Efferocytosis × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
82	Endocytosis 💬	[1] IGF1R 💬 Endocytosis × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Endocytosis × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 82. Endocytosis × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
83	Endocytosis 💬	[1] IGF1R 💬 Endocytosis × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Endocytosis × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 82. Endocytosis × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
84	Epstein-Barr virus infection 💬	[1] JAK1 💬 Epstein-Barr virus infection × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Epstein-Barr virus infection × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 84. Epstein-Barr virus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
85	Fluid shear stress and atherosclerosis 💬	[2] PRKAA, PRKAA 💬 Fluid shear stress and atherosclerosis × Name Full Name PRKAA PRKAA	Metformin 💬 Fluid shear stress and atherosclerosis × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 85. Fluid shear stress and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
86	Fluid shear stress and atherosclerosis 💬	[2] PRKAA, PRKAA 💬 Fluid shear stress and atherosclerosis × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Fluid shear stress and atherosclerosis × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 85. Fluid shear stress and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
87	Focal adhesion 💬	[1] IGF1R 💬 Focal adhesion × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Focal adhesion × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 87. Focal adhesion × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
88	Focal adhesion 💬	[1] IGF1R 💬 Focal adhesion × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Focal adhesion × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 87. Focal adhesion × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
89	FoxO signaling pathway 💬	[1] IGF1R 💬 FoxO signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 FoxO signaling pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 89. FoxO signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
90	FoxO signaling pathway 💬	[1] IGF1R 💬 FoxO signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 FoxO signaling pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 89. FoxO signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
91	FoxO signaling pathway 💬	[2] PRKAA, PRKAA 💬 FoxO signaling pathway × Name Full Name PRKAA PRKAA	Metformin 💬 FoxO signaling pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 91. FoxO signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
92	FoxO signaling pathway 💬	[2] PRKAA, PRKAA 💬 FoxO signaling pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 FoxO signaling pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 91. FoxO signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
93	Glioma 💬	[1] IGF1R 💬 Glioma × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Glioma × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 93. Glioma × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
94	Glioma 💬	[1] IGF1R 💬 Glioma × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Glioma × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 93. Glioma × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
95	Glucagon signaling pathway 💬	[1] NR1C1 💬 Glucagon signaling pathway × Name Full Name NR1C1	Fenofibrate 💬 Glucagon signaling pathway × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 95. Glucagon signaling pathway × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
96	Glucagon signaling pathway 💬	[1] PDE3B 💬 Glucagon signaling pathway × Name Full Name PDE3B phosphodiesterase 3B	Caffeine 💬 Glucagon signaling pathway × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 96. Glucagon signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
97	Glucagon signaling pathway 💬	[1] PDE3B 💬 Glucagon signaling pathway × Name Full Name PDE3B phosphodiesterase 3B	Caffeine hydrate 💬 Glucagon signaling pathway × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 96. Glucagon signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
98	Glucagon signaling pathway 💬	[1] PDE3B 💬 Glucagon signaling pathway × Name Full Name PDE3B phosphodiesterase 3B	Caffeine citrate 💬 Glucagon signaling pathway × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 96. Glucagon signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
99	Glucagon signaling pathway 💬	[2] PRKAA, PRKAA 💬 Glucagon signaling pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Glucagon signaling pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 99. Glucagon signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
100	Glucagon signaling pathway 💬	[2] PRKAA, PRKAA 💬 Glucagon signaling pathway × Name Full Name PRKAA PRKAA	Metformin 💬 Glucagon signaling pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 99. Glucagon signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
101	Growth hormone synthesis, secretion and action 💬	[1] GHR 💬 Growth hormone synthesis, secretion and action × Name Full Name GHR growth hormone receptor	Mecasermin 💬 Growth hormone synthesis, secretion and action × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 101. Growth hormone synthesis, secretion and action × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
102	Growth hormone synthesis, secretion and action 💬	[1] GHR 💬 Growth hormone synthesis, secretion and action × Name Full Name GHR growth hormone receptor	Mecasermin rinfabate 💬 Growth hormone synthesis, secretion and action × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 101. Growth hormone synthesis, secretion and action × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
103	Growth hormone synthesis, secretion and action 💬	[1] GHR 💬 Growth hormone synthesis, secretion and action × Name Full Name GHR growth hormone receptor	Pegvisomant 💬 Growth hormone synthesis, secretion and action × Name Other Names Pegvisomant Pegvisomant (USAN/INN) Pegvisomant (genetical recombination) (JAN) Somavert (TN) SOMAVERT	Pegvisomant	[2] 77, 265 💬 103. Growth hormone synthesis, secretion and action × Disease ID Name 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 265 Lipodystrophy;
104	Growth hormone synthesis, secretion and action 💬	[1] GHR 💬 Growth hormone synthesis, secretion and action × Name Full Name GHR growth hormone receptor	Somatropin 💬 Growth hormone synthesis, secretion and action × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 104. Growth hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
105	Growth hormone synthesis, secretion and action 💬	[1] GHRHR 💬 Growth hormone synthesis, secretion and action × Name Full Name GHRHR growth hormone releasing hormone receptor	Tesamorelin 💬 Growth hormone synthesis, secretion and action × Name Other Names Tesamorelin Tesamorelin (USAN)	Tesamorelin	[1] 265 💬 105. Growth hormone synthesis, secretion and action × Disease ID Name 265 Lipodystrophy;
106	Growth hormone synthesis, secretion and action 💬	[1] GHRHR 💬 Growth hormone synthesis, secretion and action × Name Full Name GHRHR growth hormone releasing hormone receptor	Tesamorelin acetate 💬 Growth hormone synthesis, secretion and action × Name Other Names Tesamorelin acetate Tesamorelin acetate (USAN) Egrifta (TN) EGRIFTA SV	Tesamorelin	[1] 265 💬 105. Growth hormone synthesis, secretion and action × Disease ID Name 265 Lipodystrophy;
107	Growth hormone synthesis, secretion and action 💬	[1] JAK2 💬 Growth hormone synthesis, secretion and action × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 Growth hormone synthesis, secretion and action × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 107. Growth hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
108	Hepatitis B 💬	[2] JAK1, JAK2 💬 Hepatitis B × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Hepatitis B × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 108. Hepatitis B × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
109	Hepatitis C 💬	[1] JAK1 💬 Hepatitis C × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Hepatitis C × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 109. Hepatitis C × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
110	Hepatitis C 💬	[1] NR1C1 💬 Hepatitis C × Name Full Name NR1C1	Fenofibrate 💬 Hepatitis C × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 110. Hepatitis C × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
111	Hepatocellular carcinoma 💬	[1] IGF1R 💬 Hepatocellular carcinoma × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Hepatocellular carcinoma × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 111. Hepatocellular carcinoma × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
112	Hepatocellular carcinoma 💬	[1] IGF1R 💬 Hepatocellular carcinoma × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Hepatocellular carcinoma × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 111. Hepatocellular carcinoma × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
113	Herpes simplex virus 1 infection 💬	[2] JAK1, JAK2 💬 Herpes simplex virus 1 infection × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Herpes simplex virus 1 infection × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 113. Herpes simplex virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
114	HIF-1 signaling pathway 💬	[1] IGF1R 💬 HIF-1 signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 HIF-1 signaling pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 114. HIF-1 signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
115	HIF-1 signaling pathway 💬	[1] IGF1R 💬 HIF-1 signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 HIF-1 signaling pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 114. HIF-1 signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
116	Hormone signaling 💬	[1] GHR 💬 Hormone signaling × Name Full Name GHR growth hormone receptor	Pegvisomant 💬 Hormone signaling × Name Other Names Pegvisomant Pegvisomant (USAN/INN) Pegvisomant (genetical recombination) (JAN) Somavert (TN) SOMAVERT	Pegvisomant	[2] 77, 265 💬 116. Hormone signaling × Disease ID Name 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 265 Lipodystrophy;
117	Hormone signaling 💬	[1] GHR 💬 Hormone signaling × Name Full Name GHR growth hormone receptor	Somatropin 💬 Hormone signaling × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 117. Hormone signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
118	Hormone signaling 💬	[2] GHR, IGF1R 💬 Hormone signaling × Name Full Name GHR growth hormone receptor IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Hormone signaling × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 118. Hormone signaling × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
119	Hormone signaling 💬	[2] GHR, IGF1R 💬 Hormone signaling × Name Full Name GHR growth hormone receptor IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Hormone signaling × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 118. Hormone signaling × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
120	Hormone signaling 💬	[1] GHRHR 💬 Hormone signaling × Name Full Name GHRHR growth hormone releasing hormone receptor	Tesamorelin 💬 Hormone signaling × Name Other Names Tesamorelin Tesamorelin (USAN)	Tesamorelin	[1] 265 💬 120. Hormone signaling × Disease ID Name 265 Lipodystrophy;
121	Hormone signaling 💬	[1] GHRHR 💬 Hormone signaling × Name Full Name GHRHR growth hormone releasing hormone receptor	Tesamorelin acetate 💬 Hormone signaling × Name Other Names Tesamorelin acetate Tesamorelin acetate (USAN) Egrifta (TN) EGRIFTA SV	Tesamorelin	[1] 265 💬 120. Hormone signaling × Disease ID Name 265 Lipodystrophy;
122	Hormone signaling 💬	[1] JAK2 💬 Hormone signaling × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 Hormone signaling × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 122. Hormone signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
123	Hormone signaling 💬	[1] LEPR 💬 Hormone signaling × Name Full Name LEPR leptin receptor	Metreleptin 💬 Hormone signaling × Name Other Names Metreleptin Metreleptin (USAN/INN) Mettreleptin (genetical recombination) (JAN) Metreleptin (TN) Myalept (TN) MYALEPT	Metreleptin	[1] 265 💬 123. Hormone signaling × Disease ID Name 265 Lipodystrophy;
124	Hormone signaling 💬	[1] MC4R 💬 Hormone signaling × Name Full Name MC4R melanocortin 4 receptor	Setmelanotide 💬 Hormone signaling × Name Other Names Setmelanotide Setmelanotide (USAN/INN) Imcivree (TN)	Setmelanotide	[4] 134, 193, 202, 265 💬 124. Hormone signaling × Disease ID Name 134 Septo-optic dysplasia;De Morsier syndrome; 193 Prader-Willi syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
125	Hormone signaling 💬	[1] MC4R 💬 Hormone signaling × Name Full Name MC4R melanocortin 4 receptor	Setmelanotide acetate 💬 Hormone signaling × Name Other Names Setmelanotide acetate Setmelanotide acetate Imcivree (TN) IMCIVREE	Setmelanotide	[4] 134, 193, 202, 265 💬 124. Hormone signaling × Disease ID Name 134 Septo-optic dysplasia;De Morsier syndrome; 193 Prader-Willi syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
126	Human cytomegalovirus infection 💬	[1] JAK1 💬 Human cytomegalovirus infection × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Human cytomegalovirus infection × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 126. Human cytomegalovirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
127	Human papillomavirus infection 💬	[1] JAK1 💬 Human papillomavirus infection × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Human papillomavirus infection × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 127. Human papillomavirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
128	Human T-cell leukemia virus 1 infection 💬	[1] JAK1 💬 Human T-cell leukemia virus 1 infection × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 128. Human T-cell leukemia virus 1 infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
129	Huntington disease 💬	[1] NR1C3 💬 Huntington disease × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Huntington disease × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 129. Huntington disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
130	Huntington disease 💬	[1] NR1C3 💬 Huntington disease × Name Full Name NR1C3	Pioglitazone 💬 Huntington disease × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 129. Huntington disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
131	Huntington disease 💬	[1] NR1C3 💬 Huntington disease × Name Full Name NR1C3	Rosiglitazone maleate 💬 Huntington disease × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 131. Huntington disease × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
132	Huntington disease 💬	[1] NR1C3 💬 Huntington disease × Name Full Name NR1C3	Rosiglitazone 💬 Huntington disease × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 131. Huntington disease × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
133	Hypertrophic cardiomyopathy 💬	[2] PRKAA, PRKAA 💬 Hypertrophic cardiomyopathy × Name Full Name PRKAA PRKAA	Metformin 💬 Hypertrophic cardiomyopathy × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 133. Hypertrophic cardiomyopathy × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
134	Hypertrophic cardiomyopathy 💬	[2] PRKAA, PRKAA 💬 Hypertrophic cardiomyopathy × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Hypertrophic cardiomyopathy × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 133. Hypertrophic cardiomyopathy × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
135	Influenza A 💬	[2] JAK1, JAK2 💬 Influenza A × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Influenza A × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 135. Influenza A × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
136	Insulin resistance 💬	[1] NR1C1 💬 Insulin resistance × Name Full Name NR1C1	Fenofibrate 💬 Insulin resistance × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 136. Insulin resistance × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
137	Insulin resistance 💬	[2] PRKAA, PRKAA 💬 Insulin resistance × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Insulin resistance × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 137. Insulin resistance × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
138	Insulin resistance 💬	[2] PRKAA, PRKAA 💬 Insulin resistance × Name Full Name PRKAA PRKAA	Metformin 💬 Insulin resistance × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 137. Insulin resistance × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
139	Insulin signaling pathway 💬	[1] PDE3B 💬 Insulin signaling pathway × Name Full Name PDE3B phosphodiesterase 3B	Caffeine 💬 Insulin signaling pathway × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 139. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
140	Insulin signaling pathway 💬	[1] PDE3B 💬 Insulin signaling pathway × Name Full Name PDE3B phosphodiesterase 3B	Caffeine hydrate 💬 Insulin signaling pathway × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 139. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
141	Insulin signaling pathway 💬	[1] PDE3B 💬 Insulin signaling pathway × Name Full Name PDE3B phosphodiesterase 3B	Caffeine citrate 💬 Insulin signaling pathway × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 139. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
142	Insulin signaling pathway 💬	[2] PRKAA, PRKAA 💬 Insulin signaling pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Insulin signaling pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 142. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
143	Insulin signaling pathway 💬	[2] PRKAA, PRKAA 💬 Insulin signaling pathway × Name Full Name PRKAA PRKAA	Metformin 💬 Insulin signaling pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 142. Insulin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
144	JAK-STAT signaling pathway 💬	[1] GHR 💬 JAK-STAT signaling pathway × Name Full Name GHR growth hormone receptor	Mecasermin 💬 JAK-STAT signaling pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 144. JAK-STAT signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
145	JAK-STAT signaling pathway 💬	[1] GHR 💬 JAK-STAT signaling pathway × Name Full Name GHR growth hormone receptor	Mecasermin rinfabate 💬 JAK-STAT signaling pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 144. JAK-STAT signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
146	JAK-STAT signaling pathway 💬	[1] GHR 💬 JAK-STAT signaling pathway × Name Full Name GHR growth hormone receptor	Pegvisomant 💬 JAK-STAT signaling pathway × Name Other Names Pegvisomant Pegvisomant (USAN/INN) Pegvisomant (genetical recombination) (JAN) Somavert (TN) SOMAVERT	Pegvisomant	[2] 77, 265 💬 146. JAK-STAT signaling pathway × Disease ID Name 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 265 Lipodystrophy;
147	JAK-STAT signaling pathway 💬	[1] GHR 💬 JAK-STAT signaling pathway × Name Full Name GHR growth hormone receptor	Somatropin 💬 JAK-STAT signaling pathway × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 147. JAK-STAT signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
148	JAK-STAT signaling pathway 💬	[2] JAK1, JAK2 💬 JAK-STAT signaling pathway × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 JAK-STAT signaling pathway × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 148. JAK-STAT signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
149	JAK-STAT signaling pathway 💬	[1] LEPR 💬 JAK-STAT signaling pathway × Name Full Name LEPR leptin receptor	Metreleptin 💬 JAK-STAT signaling pathway × Name Other Names Metreleptin Metreleptin (USAN/INN) Mettreleptin (genetical recombination) (JAN) Metreleptin (TN) Myalept (TN) MYALEPT	Metreleptin	[1] 265 💬 149. JAK-STAT signaling pathway × Disease ID Name 265 Lipodystrophy;
150	Kaposi sarcoma-associated herpesvirus infection 💬	[2] JAK1, JAK2 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 150. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
151	Leishmaniasis 💬	[2] JAK1, JAK2 💬 Leishmaniasis × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Leishmaniasis × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 151. Leishmaniasis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
152	Lipid and atherosclerosis 💬	[1] JAK2 💬 Lipid and atherosclerosis × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 Lipid and atherosclerosis × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 152. Lipid and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
153	Lipid and atherosclerosis 💬	[1] NR1C3 💬 Lipid and atherosclerosis × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Lipid and atherosclerosis × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 153. Lipid and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
154	Lipid and atherosclerosis 💬	[1] NR1C3 💬 Lipid and atherosclerosis × Name Full Name NR1C3	Pioglitazone 💬 Lipid and atherosclerosis × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 153. Lipid and atherosclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
155	Lipid and atherosclerosis 💬	[1] NR1C3 💬 Lipid and atherosclerosis × Name Full Name NR1C3	Rosiglitazone maleate 💬 Lipid and atherosclerosis × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 155. Lipid and atherosclerosis × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
156	Lipid and atherosclerosis 💬	[1] NR1C3 💬 Lipid and atherosclerosis × Name Full Name NR1C3	Rosiglitazone 💬 Lipid and atherosclerosis × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 155. Lipid and atherosclerosis × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
157	Long-term depression 💬	[1] IGF1R 💬 Long-term depression × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Long-term depression × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 157. Long-term depression × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
158	Long-term depression 💬	[1] IGF1R 💬 Long-term depression × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Long-term depression × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 157. Long-term depression × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
159	Longevity regulating pathway 💬	[1] IGF1R 💬 Longevity regulating pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Longevity regulating pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 159. Longevity regulating pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
160	Longevity regulating pathway 💬	[1] IGF1R 💬 Longevity regulating pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Longevity regulating pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 159. Longevity regulating pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
161	Longevity regulating pathway 💬	[1] NR1C3 💬 Longevity regulating pathway × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Longevity regulating pathway × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 161. Longevity regulating pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
162	Longevity regulating pathway 💬	[1] NR1C3 💬 Longevity regulating pathway × Name Full Name NR1C3	Pioglitazone 💬 Longevity regulating pathway × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 161. Longevity regulating pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
163	Longevity regulating pathway 💬	[1] NR1C3 💬 Longevity regulating pathway × Name Full Name NR1C3	Rosiglitazone maleate 💬 Longevity regulating pathway × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 163. Longevity regulating pathway × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
164	Longevity regulating pathway 💬	[1] NR1C3 💬 Longevity regulating pathway × Name Full Name NR1C3	Rosiglitazone 💬 Longevity regulating pathway × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 163. Longevity regulating pathway × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
165	Longevity regulating pathway 💬	[2] PRKAA, PRKAA 💬 Longevity regulating pathway × Name Full Name PRKAA PRKAA	Metformin 💬 Longevity regulating pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 165. Longevity regulating pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
166	Longevity regulating pathway 💬	[2] PRKAA, PRKAA 💬 Longevity regulating pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Longevity regulating pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 165. Longevity regulating pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
167	Longevity regulating pathway - multiple species 💬	[1] IGF1R 💬 Longevity regulating pathway - multiple species × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Longevity regulating pathway - multiple species × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 167. Longevity regulating pathway - multiple species × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
168	Longevity regulating pathway - multiple species 💬	[1] IGF1R 💬 Longevity regulating pathway - multiple species × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Longevity regulating pathway - multiple species × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 167. Longevity regulating pathway - multiple species × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
169	Longevity regulating pathway - multiple species 💬	[2] PRKAA, PRKAA 💬 Longevity regulating pathway - multiple species × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Longevity regulating pathway - multiple species × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 169. Longevity regulating pathway - multiple species × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
170	Longevity regulating pathway - multiple species 💬	[2] PRKAA, PRKAA 💬 Longevity regulating pathway - multiple species × Name Full Name PRKAA PRKAA	Metformin 💬 Longevity regulating pathway - multiple species × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 169. Longevity regulating pathway - multiple species × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
171	MAPK signaling pathway 💬	[1] IGF1R 💬 MAPK signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 MAPK signaling pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 171. MAPK signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
172	MAPK signaling pathway 💬	[1] IGF1R 💬 MAPK signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 MAPK signaling pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 171. MAPK signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
173	Measles 💬	[1] JAK1 💬 Measles × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Measles × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 173. Measles × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
174	Melanoma 💬	[1] IGF1R 💬 Melanoma × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Melanoma × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 174. Melanoma × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
175	Melanoma 💬	[1] IGF1R 💬 Melanoma × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Melanoma × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 174. Melanoma × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
176	Morphine addiction 💬	[9] ADORA1, PDE1, PDE2A, PDE3A, PDE3B, PDE4, PDE4, PDE4, PDE4 💬 Morphine addiction × Name Full Name ADORA1 adenosine A1 receptor PDE1 PDE2A phosphodiesterase 2A PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE4 PDE4 PDE4 PDE4	Caffeine citrate 💬 Morphine addiction × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 176. Morphine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
177	Morphine addiction 💬	[9] ADORA1, PDE1, PDE2A, PDE3A, PDE3B, PDE4, PDE4, PDE4, PDE4 💬 Morphine addiction × Name Full Name ADORA1 adenosine A1 receptor PDE1 PDE2A phosphodiesterase 2A PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE4 PDE4 PDE4 PDE4	Caffeine 💬 Morphine addiction × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 176. Morphine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
178	Morphine addiction 💬	[9] ADORA1, PDE1, PDE2A, PDE3A, PDE3B, PDE4, PDE4, PDE4, PDE4 💬 Morphine addiction × Name Full Name ADORA1 adenosine A1 receptor PDE1 PDE2A phosphodiesterase 2A PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE4 PDE4 PDE4 PDE4	Caffeine hydrate 💬 Morphine addiction × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 176. Morphine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
179	mTOR signaling pathway 💬	[1] IGF1R 💬 mTOR signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 mTOR signaling pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 179. mTOR signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
180	mTOR signaling pathway 💬	[1] IGF1R 💬 mTOR signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 mTOR signaling pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 179. mTOR signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
181	mTOR signaling pathway 💬	[2] PRKAA, PRKAA 💬 mTOR signaling pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 mTOR signaling pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 181. mTOR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
182	mTOR signaling pathway 💬	[2] PRKAA, PRKAA 💬 mTOR signaling pathway × Name Full Name PRKAA PRKAA	Metformin 💬 mTOR signaling pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 181. mTOR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
183	Necroptosis 💬	[2] JAK1, JAK2 💬 Necroptosis × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Necroptosis × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 183. Necroptosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
184	Neuroactive ligand signaling 💬	[2] ADORA1, ADORA2A 💬 Neuroactive ligand signaling × Name Full Name ADORA1 adenosine A1 receptor ADORA2A adenosine A2a receptor	Caffeine 💬 Neuroactive ligand signaling × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 184. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
185	Neuroactive ligand signaling 💬	[2] ADORA1, ADORA2A 💬 Neuroactive ligand signaling × Name Full Name ADORA1 adenosine A1 receptor ADORA2A adenosine A2a receptor	Caffeine hydrate 💬 Neuroactive ligand signaling × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 184. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
186	Neuroactive ligand signaling 💬	[2] ADORA1, ADORA2A 💬 Neuroactive ligand signaling × Name Full Name ADORA1 adenosine A1 receptor ADORA2A adenosine A2a receptor	Caffeine citrate 💬 Neuroactive ligand signaling × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 184. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
187	Neuroactive ligand signaling 💬	[1] MC4R 💬 Neuroactive ligand signaling × Name Full Name MC4R melanocortin 4 receptor	Setmelanotide 💬 Neuroactive ligand signaling × Name Other Names Setmelanotide Setmelanotide (USAN/INN) Imcivree (TN)	Setmelanotide	[4] 134, 193, 202, 265 💬 187. Neuroactive ligand signaling × Disease ID Name 134 Septo-optic dysplasia;De Morsier syndrome; 193 Prader-Willi syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
188	Neuroactive ligand signaling 💬	[1] MC4R 💬 Neuroactive ligand signaling × Name Full Name MC4R melanocortin 4 receptor	Setmelanotide acetate 💬 Neuroactive ligand signaling × Name Other Names Setmelanotide acetate Setmelanotide acetate Imcivree (TN) IMCIVREE	Setmelanotide	[4] 134, 193, 202, 265 💬 187. Neuroactive ligand signaling × Disease ID Name 134 Septo-optic dysplasia;De Morsier syndrome; 193 Prader-Willi syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
189	Neuroactive ligand-receptor interaction 💬	[2] ADORA1, ADORA2A 💬 Neuroactive ligand-receptor interaction × Name Full Name ADORA1 adenosine A1 receptor ADORA2A adenosine A2a receptor	Caffeine 💬 Neuroactive ligand-receptor interaction × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 189. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
190	Neuroactive ligand-receptor interaction 💬	[2] ADORA1, ADORA2A 💬 Neuroactive ligand-receptor interaction × Name Full Name ADORA1 adenosine A1 receptor ADORA2A adenosine A2a receptor	Caffeine hydrate 💬 Neuroactive ligand-receptor interaction × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 189. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
191	Neuroactive ligand-receptor interaction 💬	[2] ADORA1, ADORA2A 💬 Neuroactive ligand-receptor interaction × Name Full Name ADORA1 adenosine A1 receptor ADORA2A adenosine A2a receptor	Caffeine citrate 💬 Neuroactive ligand-receptor interaction × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 189. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
192	Neuroactive ligand-receptor interaction 💬	[1] GHR 💬 Neuroactive ligand-receptor interaction × Name Full Name GHR growth hormone receptor	Mecasermin 💬 Neuroactive ligand-receptor interaction × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 192. Neuroactive ligand-receptor interaction × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
193	Neuroactive ligand-receptor interaction 💬	[1] GHR 💬 Neuroactive ligand-receptor interaction × Name Full Name GHR growth hormone receptor	Mecasermin rinfabate 💬 Neuroactive ligand-receptor interaction × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 192. Neuroactive ligand-receptor interaction × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
194	Neuroactive ligand-receptor interaction 💬	[1] GHR 💬 Neuroactive ligand-receptor interaction × Name Full Name GHR growth hormone receptor	Pegvisomant 💬 Neuroactive ligand-receptor interaction × Name Other Names Pegvisomant Pegvisomant (USAN/INN) Pegvisomant (genetical recombination) (JAN) Somavert (TN) SOMAVERT	Pegvisomant	[2] 77, 265 💬 194. Neuroactive ligand-receptor interaction × Disease ID Name 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 265 Lipodystrophy;
195	Neuroactive ligand-receptor interaction 💬	[1] GHR 💬 Neuroactive ligand-receptor interaction × Name Full Name GHR growth hormone receptor	Somatropin 💬 Neuroactive ligand-receptor interaction × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 195. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
196	Neuroactive ligand-receptor interaction 💬	[1] GHRHR 💬 Neuroactive ligand-receptor interaction × Name Full Name GHRHR growth hormone releasing hormone receptor	Tesamorelin 💬 Neuroactive ligand-receptor interaction × Name Other Names Tesamorelin Tesamorelin (USAN)	Tesamorelin	[1] 265 💬 196. Neuroactive ligand-receptor interaction × Disease ID Name 265 Lipodystrophy;
197	Neuroactive ligand-receptor interaction 💬	[1] GHRHR 💬 Neuroactive ligand-receptor interaction × Name Full Name GHRHR growth hormone releasing hormone receptor	Tesamorelin acetate 💬 Neuroactive ligand-receptor interaction × Name Other Names Tesamorelin acetate Tesamorelin acetate (USAN) Egrifta (TN) EGRIFTA SV	Tesamorelin	[1] 265 💬 196. Neuroactive ligand-receptor interaction × Disease ID Name 265 Lipodystrophy;
198	Neuroactive ligand-receptor interaction 💬	[1] LEPR 💬 Neuroactive ligand-receptor interaction × Name Full Name LEPR leptin receptor	Metreleptin 💬 Neuroactive ligand-receptor interaction × Name Other Names Metreleptin Metreleptin (USAN/INN) Mettreleptin (genetical recombination) (JAN) Metreleptin (TN) Myalept (TN) MYALEPT	Metreleptin	[1] 265 💬 198. Neuroactive ligand-receptor interaction × Disease ID Name 265 Lipodystrophy;
199	Neuroactive ligand-receptor interaction 💬	[1] MC4R 💬 Neuroactive ligand-receptor interaction × Name Full Name MC4R melanocortin 4 receptor	Setmelanotide 💬 Neuroactive ligand-receptor interaction × Name Other Names Setmelanotide Setmelanotide (USAN/INN) Imcivree (TN)	Setmelanotide	[4] 134, 193, 202, 265 💬 199. Neuroactive ligand-receptor interaction × Disease ID Name 134 Septo-optic dysplasia;De Morsier syndrome; 193 Prader-Willi syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
200	Neuroactive ligand-receptor interaction 💬	[1] MC4R 💬 Neuroactive ligand-receptor interaction × Name Full Name MC4R melanocortin 4 receptor	Setmelanotide acetate 💬 Neuroactive ligand-receptor interaction × Name Other Names Setmelanotide acetate Setmelanotide acetate Imcivree (TN) IMCIVREE	Setmelanotide	[4] 134, 193, 202, 265 💬 199. Neuroactive ligand-receptor interaction × Disease ID Name 134 Septo-optic dysplasia;De Morsier syndrome; 193 Prader-Willi syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
201	Neuroactive ligand-receptor interaction 💬	[2] MTNR1A, MTNR1B 💬 Neuroactive ligand-receptor interaction × Name Full Name MTNR1A melatonin receptor 1A MTNR1B melatonin receptor 1B	Melatonin 💬 Neuroactive ligand-receptor interaction × Name Other Names Melatonin Melatonin (JAN) Melatonina (TN) Melatobel (TN)	Melatonin	[17]  2 ,  6 ,  8 , 13, 37, 46, 49, 72, 78, 86, 90, 96, 97, 145, 149, 202, 265 💬 201. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 86 Pulmonary arterial hypertension;PAH; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
202	NOD-like receptor signaling pathway 💬	[1] JAK1 💬 NOD-like receptor signaling pathway × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 NOD-like receptor signaling pathway × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 202. NOD-like receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
203	Non-alcoholic fatty liver disease 💬	[1] LEPR 💬 Non-alcoholic fatty liver disease × Name Full Name LEPR leptin receptor	Metreleptin 💬 Non-alcoholic fatty liver disease × Name Other Names Metreleptin Metreleptin (USAN/INN) Mettreleptin (genetical recombination) (JAN) Metreleptin (TN) Myalept (TN) MYALEPT	Metreleptin	[1] 265 💬 203. Non-alcoholic fatty liver disease × Disease ID Name 265 Lipodystrophy;
204	Non-alcoholic fatty liver disease 💬	[1] NR1C1 💬 Non-alcoholic fatty liver disease × Name Full Name NR1C1	Fenofibrate 💬 Non-alcoholic fatty liver disease × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 204. Non-alcoholic fatty liver disease × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
205	Non-alcoholic fatty liver disease 💬	[1] NR1C3 💬 Non-alcoholic fatty liver disease × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Non-alcoholic fatty liver disease × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 205. Non-alcoholic fatty liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
206	Non-alcoholic fatty liver disease 💬	[1] NR1C3 💬 Non-alcoholic fatty liver disease × Name Full Name NR1C3	Pioglitazone 💬 Non-alcoholic fatty liver disease × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 205. Non-alcoholic fatty liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
207	Non-alcoholic fatty liver disease 💬	[1] NR1C3 💬 Non-alcoholic fatty liver disease × Name Full Name NR1C3	Rosiglitazone maleate 💬 Non-alcoholic fatty liver disease × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 207. Non-alcoholic fatty liver disease × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
208	Non-alcoholic fatty liver disease 💬	[1] NR1C3 💬 Non-alcoholic fatty liver disease × Name Full Name NR1C3	Rosiglitazone 💬 Non-alcoholic fatty liver disease × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 207. Non-alcoholic fatty liver disease × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
209	Non-alcoholic fatty liver disease 💬	[2] PRKAA, PRKAA 💬 Non-alcoholic fatty liver disease × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Non-alcoholic fatty liver disease × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 209. Non-alcoholic fatty liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
210	Non-alcoholic fatty liver disease 💬	[2] PRKAA, PRKAA 💬 Non-alcoholic fatty liver disease × Name Full Name PRKAA PRKAA	Metformin 💬 Non-alcoholic fatty liver disease × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 209. Non-alcoholic fatty liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
211	Olfactory transduction 💬	[2] PDE1, PDE2A 💬 Olfactory transduction × Name Full Name PDE1 PDE2A phosphodiesterase 2A	Caffeine 💬 Olfactory transduction × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 211. Olfactory transduction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
212	Olfactory transduction 💬	[2] PDE1, PDE2A 💬 Olfactory transduction × Name Full Name PDE1 PDE2A phosphodiesterase 2A	Caffeine hydrate 💬 Olfactory transduction × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 211. Olfactory transduction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
213	Olfactory transduction 💬	[2] PDE1, PDE2A 💬 Olfactory transduction × Name Full Name PDE1 PDE2A phosphodiesterase 2A	Caffeine citrate 💬 Olfactory transduction × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 211. Olfactory transduction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
214	Oocyte meiosis 💬	[1] AR 💬 Oocyte meiosis × Name Full Name AR androgen receptor	Testosterone 💬 Oocyte meiosis × Name Other Names Testosterone Testosterone (JAN/USP) Androderm (TN) Androgel (TN) Axiron (TN) Striant (TN) Testim (TN) ANDROGEL NATESTO TESTIM VOGELXO TESTOPEL TESTOSTERONE TESTOSTERONE GEL, 1%	Testosterone	[9]  1 ,  2 ,  3 , 13, 60, 76, 78, 113, 265 💬 214. Oocyte meiosis × Disease ID Name  1  Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 60 Aplastic anemia; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 265 Lipodystrophy;
215	Oocyte meiosis 💬	[1] IGF1R 💬 Oocyte meiosis × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Oocyte meiosis × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 215. Oocyte meiosis × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
216	Oocyte meiosis 💬	[1] IGF1R 💬 Oocyte meiosis × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Oocyte meiosis × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 215. Oocyte meiosis × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
217	Osteoclast differentiation 💬	[1] JAK1 💬 Osteoclast differentiation × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Osteoclast differentiation × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 217. Osteoclast differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
218	Osteoclast differentiation 💬	[1] NR1C3 💬 Osteoclast differentiation × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Osteoclast differentiation × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 218. Osteoclast differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
219	Osteoclast differentiation 💬	[1] NR1C3 💬 Osteoclast differentiation × Name Full Name NR1C3	Pioglitazone 💬 Osteoclast differentiation × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 218. Osteoclast differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
220	Osteoclast differentiation 💬	[1] NR1C3 💬 Osteoclast differentiation × Name Full Name NR1C3	Rosiglitazone maleate 💬 Osteoclast differentiation × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 220. Osteoclast differentiation × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
221	Osteoclast differentiation 💬	[1] NR1C3 💬 Osteoclast differentiation × Name Full Name NR1C3	Rosiglitazone 💬 Osteoclast differentiation × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 220. Osteoclast differentiation × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
222	Ovarian steroidogenesis 💬	[1] IGF1R 💬 Ovarian steroidogenesis × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Ovarian steroidogenesis × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 222. Ovarian steroidogenesis × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
223	Ovarian steroidogenesis 💬	[1] IGF1R 💬 Ovarian steroidogenesis × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Ovarian steroidogenesis × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 222. Ovarian steroidogenesis × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
224	Oxytocin signaling pathway 💬	[2] PRKAA, PRKAA 💬 Oxytocin signaling pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Oxytocin signaling pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 224. Oxytocin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
225	Oxytocin signaling pathway 💬	[2] PRKAA, PRKAA 💬 Oxytocin signaling pathway × Name Full Name PRKAA PRKAA	Metformin 💬 Oxytocin signaling pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 224. Oxytocin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
226	Pancreatic cancer 💬	[1] JAK1 💬 Pancreatic cancer × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Pancreatic cancer × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 226. Pancreatic cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
227	Parathyroid hormone synthesis, secretion and action 💬	[4] PDE4, PDE4, PDE4, PDE4 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name PDE4 PDE4 PDE4 PDE4	Caffeine 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 227. Parathyroid hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
228	Parathyroid hormone synthesis, secretion and action 💬	[4] PDE4, PDE4, PDE4, PDE4 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name PDE4 PDE4 PDE4 PDE4	Caffeine hydrate 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 227. Parathyroid hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
229	Parathyroid hormone synthesis, secretion and action 💬	[4] PDE4, PDE4, PDE4, PDE4 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name PDE4 PDE4 PDE4 PDE4	Caffeine citrate 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 227. Parathyroid hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
230	Parkinson disease 💬	[1] ADORA2A 💬 Parkinson disease × Name Full Name ADORA2A adenosine A2a receptor	Caffeine 💬 Parkinson disease × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 230. Parkinson disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
231	Parkinson disease 💬	[1] ADORA2A 💬 Parkinson disease × Name Full Name ADORA2A adenosine A2a receptor	Caffeine hydrate 💬 Parkinson disease × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 230. Parkinson disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
232	Parkinson disease 💬	[1] ADORA2A 💬 Parkinson disease × Name Full Name ADORA2A adenosine A2a receptor	Caffeine citrate 💬 Parkinson disease × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 230. Parkinson disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
233	Pathways in cancer 💬	[1] AR 💬 Pathways in cancer × Name Full Name AR androgen receptor	Testosterone 💬 Pathways in cancer × Name Other Names Testosterone Testosterone (JAN/USP) Androderm (TN) Androgel (TN) Axiron (TN) Striant (TN) Testim (TN) ANDROGEL NATESTO TESTIM VOGELXO TESTOPEL TESTOSTERONE TESTOSTERONE GEL, 1%	Testosterone	[9]  1 ,  2 ,  3 , 13, 60, 76, 78, 113, 265 💬 233. Pathways in cancer × Disease ID Name  1  Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 60 Aplastic anemia; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 265 Lipodystrophy;
234	Pathways in cancer 💬	[1] IGF1R 💬 Pathways in cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Pathways in cancer × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 234. Pathways in cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
235	Pathways in cancer 💬	[1] IGF1R 💬 Pathways in cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Pathways in cancer × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 234. Pathways in cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
236	Pathways in cancer 💬	[2] JAK1, JAK2 💬 Pathways in cancer × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Pathways in cancer × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 236. Pathways in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
237	Pathways in cancer 💬	[1] NR1C3 💬 Pathways in cancer × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Pathways in cancer × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 237. Pathways in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
238	Pathways in cancer 💬	[1] NR1C3 💬 Pathways in cancer × Name Full Name NR1C3	Pioglitazone 💬 Pathways in cancer × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 237. Pathways in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
239	Pathways in cancer 💬	[1] NR1C3 💬 Pathways in cancer × Name Full Name NR1C3	Rosiglitazone maleate 💬 Pathways in cancer × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 239. Pathways in cancer × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
240	Pathways in cancer 💬	[1] NR1C3 💬 Pathways in cancer × Name Full Name NR1C3	Rosiglitazone 💬 Pathways in cancer × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 239. Pathways in cancer × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
241	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[2] JAK1, JAK2 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 241. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
242	PI3K-Akt signaling pathway 💬	[1] GHR 💬 PI3K-Akt signaling pathway × Name Full Name GHR growth hormone receptor	Pegvisomant 💬 PI3K-Akt signaling pathway × Name Other Names Pegvisomant Pegvisomant (USAN/INN) Pegvisomant (genetical recombination) (JAN) Somavert (TN) SOMAVERT	Pegvisomant	[2] 77, 265 💬 242. PI3K-Akt signaling pathway × Disease ID Name 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 265 Lipodystrophy;
243	PI3K-Akt signaling pathway 💬	[1] GHR 💬 PI3K-Akt signaling pathway × Name Full Name GHR growth hormone receptor	Somatropin 💬 PI3K-Akt signaling pathway × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 243. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
244	PI3K-Akt signaling pathway 💬	[2] GHR, IGF1R 💬 PI3K-Akt signaling pathway × Name Full Name GHR growth hormone receptor IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 PI3K-Akt signaling pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 244. PI3K-Akt signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
245	PI3K-Akt signaling pathway 💬	[2] GHR, IGF1R 💬 PI3K-Akt signaling pathway × Name Full Name GHR growth hormone receptor IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 PI3K-Akt signaling pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 244. PI3K-Akt signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
246	PI3K-Akt signaling pathway 💬	[2] JAK1, JAK2 💬 PI3K-Akt signaling pathway × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 PI3K-Akt signaling pathway × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 246. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
247	PI3K-Akt signaling pathway 💬	[2] PRKAA, PRKAA 💬 PI3K-Akt signaling pathway × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 PI3K-Akt signaling pathway × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 247. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
248	PI3K-Akt signaling pathway 💬	[2] PRKAA, PRKAA 💬 PI3K-Akt signaling pathway × Name Full Name PRKAA PRKAA	Metformin 💬 PI3K-Akt signaling pathway × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 247. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
249	PPAR signaling pathway 💬	[1] APOC3 💬 PPAR signaling pathway × Name Full Name APOC3 apolipoprotein C3	Volanesorsen 💬 PPAR signaling pathway × Name Other Names Volanesorsen Volanesorsen (USAN/INN) Waylivra (TN)	Volanesorsen	[1] 265 💬 249. PPAR signaling pathway × Disease ID Name 265 Lipodystrophy;
250	PPAR signaling pathway 💬	[1] APOC3 💬 PPAR signaling pathway × Name Full Name APOC3 apolipoprotein C3	Volanesorsen sodium 💬 PPAR signaling pathway × Name Other Names Volanesorsen sodium Volanesorsen sodium (USAN) Waylivra (TN)	Volanesorsen	[1] 265 💬 249. PPAR signaling pathway × Disease ID Name 265 Lipodystrophy;
251	PPAR signaling pathway 💬	[1] NR1C1 💬 PPAR signaling pathway × Name Full Name NR1C1	Fenofibrate 💬 PPAR signaling pathway × Name Other Names Fenofibrate Fenofibrate (JP18/USP/INN) Antara (TN) Lipantil (TN) Lipofen (TN) Tricor (TN) Triglide (TN) ANTARA LIPOFEN TRICOR FENOFIBRATE	Fenofibrate	[6]  8 , 79, 93, 94, 97, 265 💬 251. PPAR signaling pathway × Disease ID Name  8  Huntington disease;Huntington chorea; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 94 Primary sclerosing cholangitis;PSC; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
252	PPAR signaling pathway 💬	[1] NR1C3 💬 PPAR signaling pathway × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 PPAR signaling pathway × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 252. PPAR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
253	PPAR signaling pathway 💬	[1] NR1C3 💬 PPAR signaling pathway × Name Full Name NR1C3	Pioglitazone 💬 PPAR signaling pathway × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 252. PPAR signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
254	PPAR signaling pathway 💬	[1] NR1C3 💬 PPAR signaling pathway × Name Full Name NR1C3	Rosiglitazone maleate 💬 PPAR signaling pathway × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 254. PPAR signaling pathway × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
255	PPAR signaling pathway 💬	[1] NR1C3 💬 PPAR signaling pathway × Name Full Name NR1C3	Rosiglitazone 💬 PPAR signaling pathway × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 254. PPAR signaling pathway × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
256	Progesterone-mediated oocyte maturation 💬	[1] IGF1R 💬 Progesterone-mediated oocyte maturation × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Progesterone-mediated oocyte maturation × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 256. Progesterone-mediated oocyte maturation × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
257	Progesterone-mediated oocyte maturation 💬	[1] IGF1R 💬 Progesterone-mediated oocyte maturation × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Progesterone-mediated oocyte maturation × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 256. Progesterone-mediated oocyte maturation × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
258	Progesterone-mediated oocyte maturation 💬	[1] PDE3B 💬 Progesterone-mediated oocyte maturation × Name Full Name PDE3B phosphodiesterase 3B	Caffeine 💬 Progesterone-mediated oocyte maturation × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 258. Progesterone-mediated oocyte maturation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
259	Progesterone-mediated oocyte maturation 💬	[1] PDE3B 💬 Progesterone-mediated oocyte maturation × Name Full Name PDE3B phosphodiesterase 3B	Caffeine hydrate 💬 Progesterone-mediated oocyte maturation × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 258. Progesterone-mediated oocyte maturation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
260	Progesterone-mediated oocyte maturation 💬	[1] PDE3B 💬 Progesterone-mediated oocyte maturation × Name Full Name PDE3B phosphodiesterase 3B	Caffeine citrate 💬 Progesterone-mediated oocyte maturation × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 258. Progesterone-mediated oocyte maturation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
261	Prolactin signaling pathway 💬	[1] JAK2 💬 Prolactin signaling pathway × Name Full Name JAK2 Janus kinase 2	Baricitinib 💬 Prolactin signaling pathway × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 261. Prolactin signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
262	Prostate cancer 💬	[1] AR 💬 Prostate cancer × Name Full Name AR androgen receptor	Testosterone 💬 Prostate cancer × Name Other Names Testosterone Testosterone (JAN/USP) Androderm (TN) Androgel (TN) Axiron (TN) Striant (TN) Testim (TN) ANDROGEL NATESTO TESTIM VOGELXO TESTOPEL TESTOSTERONE TESTOSTERONE GEL, 1%	Testosterone	[9]  1 ,  2 ,  3 , 13, 60, 76, 78, 113, 265 💬 262. Prostate cancer × Disease ID Name  1  Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 60 Aplastic anemia; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 265 Lipodystrophy;
263	Prostate cancer 💬	[1] IGF1R 💬 Prostate cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Prostate cancer × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 263. Prostate cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
264	Prostate cancer 💬	[1] IGF1R 💬 Prostate cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Prostate cancer × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 263. Prostate cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
265	Proteoglycans in cancer 💬	[1] IGF1R 💬 Proteoglycans in cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Proteoglycans in cancer × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 265. Proteoglycans in cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
266	Proteoglycans in cancer 💬	[1] IGF1R 💬 Proteoglycans in cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Proteoglycans in cancer × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 265. Proteoglycans in cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
267	Purine metabolism 💬	[9] PDE1, PDE2A, PDE3A, PDE3B, PDE4, PDE4, PDE4, PDE4, PDE5 💬 Purine metabolism × Name Full Name PDE1 PDE2A phosphodiesterase 2A PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE4 PDE4 PDE4 PDE4 PDE5	Caffeine 💬 Purine metabolism × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 267. Purine metabolism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
268	Purine metabolism 💬	[9] PDE1, PDE2A, PDE3A, PDE3B, PDE4, PDE4, PDE4, PDE4, PDE5 💬 Purine metabolism × Name Full Name PDE1 PDE2A phosphodiesterase 2A PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE4 PDE4 PDE4 PDE4 PDE5	Caffeine citrate 💬 Purine metabolism × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 267. Purine metabolism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
269	Purine metabolism 💬	[9] PDE1, PDE2A, PDE3A, PDE3B, PDE4, PDE4, PDE4, PDE4, PDE5 💬 Purine metabolism × Name Full Name PDE1 PDE2A phosphodiesterase 2A PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B PDE4 PDE4 PDE4 PDE4 PDE5	Caffeine hydrate 💬 Purine metabolism × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 267. Purine metabolism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
270	Rap1 signaling pathway 💬	[1] ADORA2A 💬 Rap1 signaling pathway × Name Full Name ADORA2A adenosine A2a receptor	Caffeine 💬 Rap1 signaling pathway × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 270. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
271	Rap1 signaling pathway 💬	[1] ADORA2A 💬 Rap1 signaling pathway × Name Full Name ADORA2A adenosine A2a receptor	Caffeine hydrate 💬 Rap1 signaling pathway × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 270. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
272	Rap1 signaling pathway 💬	[1] ADORA2A 💬 Rap1 signaling pathway × Name Full Name ADORA2A adenosine A2a receptor	Caffeine citrate 💬 Rap1 signaling pathway × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 270. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
273	Rap1 signaling pathway 💬	[1] IGF1R 💬 Rap1 signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Rap1 signaling pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 273. Rap1 signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
274	Rap1 signaling pathway 💬	[1] IGF1R 💬 Rap1 signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Rap1 signaling pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 273. Rap1 signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
275	Ras signaling pathway 💬	[1] IGF1R 💬 Ras signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Ras signaling pathway × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 275. Ras signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
276	Ras signaling pathway 💬	[1] IGF1R 💬 Ras signaling pathway × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Ras signaling pathway × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 275. Ras signaling pathway × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
277	Regulation of lipolysis in adipocytes 💬	[2] ADORA1, PDE3B 💬 Regulation of lipolysis in adipocytes × Name Full Name ADORA1 adenosine A1 receptor PDE3B phosphodiesterase 3B	Caffeine 💬 Regulation of lipolysis in adipocytes × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 277. Regulation of lipolysis in adipocytes × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
278	Regulation of lipolysis in adipocytes 💬	[2] ADORA1, PDE3B 💬 Regulation of lipolysis in adipocytes × Name Full Name ADORA1 adenosine A1 receptor PDE3B phosphodiesterase 3B	Caffeine hydrate 💬 Regulation of lipolysis in adipocytes × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 277. Regulation of lipolysis in adipocytes × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
279	Regulation of lipolysis in adipocytes 💬	[2] ADORA1, PDE3B 💬 Regulation of lipolysis in adipocytes × Name Full Name ADORA1 adenosine A1 receptor PDE3B phosphodiesterase 3B	Caffeine citrate 💬 Regulation of lipolysis in adipocytes × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 277. Regulation of lipolysis in adipocytes × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
280	Renin secretion 💬	[4] ADORA1, PDE1, PDE3A, PDE3B 💬 Renin secretion × Name Full Name ADORA1 adenosine A1 receptor PDE1 PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B	Caffeine 💬 Renin secretion × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 280. Renin secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
281	Renin secretion 💬	[4] ADORA1, PDE1, PDE3A, PDE3B 💬 Renin secretion × Name Full Name ADORA1 adenosine A1 receptor PDE1 PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B	Caffeine hydrate 💬 Renin secretion × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 280. Renin secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
282	Renin secretion 💬	[4] ADORA1, PDE1, PDE3A, PDE3B 💬 Renin secretion × Name Full Name ADORA1 adenosine A1 receptor PDE1 PDE3A phosphodiesterase 3A PDE3B phosphodiesterase 3B	Caffeine citrate 💬 Renin secretion × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 280. Renin secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
283	Signaling pathways regulating pluripotency of stem cells 💬	[1] IGF1R 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 283. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
284	Signaling pathways regulating pluripotency of stem cells 💬	[1] IGF1R 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 283. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
285	Signaling pathways regulating pluripotency of stem cells 💬	[2] JAK1, JAK2 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 285. Signaling pathways regulating pluripotency of stem cells × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
286	Sphingolipid signaling pathway 💬	[1] ADORA1 💬 Sphingolipid signaling pathway × Name Full Name ADORA1 adenosine A1 receptor	Caffeine 💬 Sphingolipid signaling pathway × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 286. Sphingolipid signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
287	Sphingolipid signaling pathway 💬	[1] ADORA1 💬 Sphingolipid signaling pathway × Name Full Name ADORA1 adenosine A1 receptor	Caffeine hydrate 💬 Sphingolipid signaling pathway × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 286. Sphingolipid signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
288	Sphingolipid signaling pathway 💬	[1] ADORA1 💬 Sphingolipid signaling pathway × Name Full Name ADORA1 adenosine A1 receptor	Caffeine citrate 💬 Sphingolipid signaling pathway × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 286. Sphingolipid signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
289	Taste transduction 💬	[1] PDE1 💬 Taste transduction × Name Full Name PDE1	Caffeine 💬 Taste transduction × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 289. Taste transduction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
290	Taste transduction 💬	[1] PDE1 💬 Taste transduction × Name Full Name PDE1	Caffeine hydrate 💬 Taste transduction × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 289. Taste transduction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
291	Taste transduction 💬	[1] PDE1 💬 Taste transduction × Name Full Name PDE1	Caffeine citrate 💬 Taste transduction × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 289. Taste transduction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
292	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin calcium 💬 Terpenoid backbone biosynthesis × Name Other Names Atorvastatin calcium Atorvastatin calcium (USP) Atorvastatin calcium hydrate (JP18) Atorvastatin calcium trihydrate Atorvaliq (TN) Lipitor (TN) ATORVALIQ LIPITOR ATORVASTATIN CALCIUM	Atorvastatin	[20] 13, 22, 46, 49, 51, 58, 63, 67, 79, 84, 88, 93, 96, 97, 160, 225, 265, 271, 297, 299 💬 292. Terpenoid backbone biosynthesis × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 58 Hypertrophic cardiomyopathy;HCM; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 84 Sarcoidosis; 88 Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 297 Alagille syndrome; 299 Cystic fibrosis;CF;
293	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin 💬 Terpenoid backbone biosynthesis × Name Other Names Atorvastatin Atorvastatin (INN) Lipitor (TN) Sortis (TN)	Atorvastatin	[20] 13, 22, 46, 49, 51, 58, 63, 67, 79, 84, 88, 93, 96, 97, 160, 225, 265, 271, 297, 299 💬 292. Terpenoid backbone biosynthesis × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 22 Moyamoya disease;Occlusive disease in circle of Willis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 58 Hypertrophic cardiomyopathy;HCM; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 84 Sarcoidosis; 88 Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 297 Alagille syndrome; 299 Cystic fibrosis;CF;
294	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Pravastatin sodium 💬 Terpenoid backbone biosynthesis × Name Other Names Pravastatin sodium Pravastatin sodium (JP18/USP) CS-514 Pravachol (TN)	Pravastatin	[10] 13, 46, 49, 67, 79, 96, 164, 210, 265, 333 💬 294. Terpenoid backbone biosynthesis × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 265 Lipodystrophy; 333 Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;
295	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Pravastatin 💬 Terpenoid backbone biosynthesis × Name Other Names Pravastatin Pravastatin (INN) Pravator (TN)	Pravastatin	[10] 13, 46, 49, 67, 79, 96, 164, 210, 265, 333 💬 294. Terpenoid backbone biosynthesis × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 210 Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome; 265 Lipodystrophy; 333 Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;
296	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase	Simvastatin 💬 Terpenoid backbone biosynthesis × Name Other Names Simvastatin Simvastatin (JP18/USP/INN) MK-733 Zocor (TN) FLOLIPID ZOCOR SIMVASTATIN	Simvastatin	[21]  6 , 13, 15, 34, 46, 49, 51, 66, 79, 86, 89, 94, 158, 160, 162, 195, 265, 288, 298, 299, 310 💬 296. Terpenoid backbone biosynthesis × Disease ID Name  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 86 Pulmonary arterial hypertension;PAH; 89 Lymphangioleiomyomatosis;LAM; 94 Primary sclerosing cholangitis;PSC; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 160 Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS; 162 Pemphigoid; 195 Noonan syndrome; 265 Lipodystrophy; 288 Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Factor XIII deficiency;Factor VIII deficiency;Acquired hemophilia A;VWF deficiency;von Willebrand Disease;VWD;Factor V deficiency;Factor X deficiency; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 310 Congenital anomalies syndrome;Partial trisomy 1q syndrome;Trisomy 1q;9q34 deletion syndrome;Cornelia de Lange syndrome;CdLS;Smith-Lemli-Opitz syndrome;SLO syndrome;
297	Th1 and Th2 cell differentiation 💬	[2] JAK1, JAK2 💬 Th1 and Th2 cell differentiation × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Th1 and Th2 cell differentiation × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 297. Th1 and Th2 cell differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
298	Th17 cell differentiation 💬	[2] JAK1, JAK2 💬 Th17 cell differentiation × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Th17 cell differentiation × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 298. Th17 cell differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
299	Thermogenesis 💬	[1] NR1C3 💬 Thermogenesis × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Thermogenesis × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 299. Thermogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
300	Thermogenesis 💬	[1] NR1C3 💬 Thermogenesis × Name Full Name NR1C3	Pioglitazone 💬 Thermogenesis × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 299. Thermogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
301	Thermogenesis 💬	[1] NR1C3 💬 Thermogenesis × Name Full Name NR1C3	Rosiglitazone maleate 💬 Thermogenesis × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 301. Thermogenesis × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
302	Thermogenesis 💬	[1] NR1C3 💬 Thermogenesis × Name Full Name NR1C3	Rosiglitazone 💬 Thermogenesis × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 301. Thermogenesis × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
303	Thermogenesis 💬	[2] PRKAA, PRKAA 💬 Thermogenesis × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Thermogenesis × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 303. Thermogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
304	Thermogenesis 💬	[2] PRKAA, PRKAA 💬 Thermogenesis × Name Full Name PRKAA PRKAA	Metformin 💬 Thermogenesis × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 303. Thermogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
305	Thyroid cancer 💬	[1] NR1C3 💬 Thyroid cancer × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Thyroid cancer × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 305. Thyroid cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
306	Thyroid cancer 💬	[1] NR1C3 💬 Thyroid cancer × Name Full Name NR1C3	Pioglitazone 💬 Thyroid cancer × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 305. Thyroid cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
307	Thyroid cancer 💬	[1] NR1C3 💬 Thyroid cancer × Name Full Name NR1C3	Rosiglitazone maleate 💬 Thyroid cancer × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 307. Thyroid cancer × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
308	Thyroid cancer 💬	[1] NR1C3 💬 Thyroid cancer × Name Full Name NR1C3	Rosiglitazone 💬 Thyroid cancer × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 307. Thyroid cancer × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
309	Tight junction 💬	[2] PRKAA, PRKAA 💬 Tight junction × Name Full Name PRKAA PRKAA	Metformin 💬 Tight junction × Name Other Names Metformin Metformin (USAN/INN)	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 309. Tight junction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
310	Tight junction 💬	[2] PRKAA, PRKAA 💬 Tight junction × Name Full Name PRKAA PRKAA	Metformin hydrochloride 💬 Tight junction × Name Other Names Metformin hydrochloride Metformin hydrochloride (JP18/USP) Glucophage (TN) GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION	Metformin	[28]  2 ,  6 ,  8 , 13, 46, 49, 60, 65, 66, 67, 75, 77, 81, 84, 86, 97, 113, 127, 158, 206, 218, 222, 225, 265, 285, 298, 299, 301 💬 309. Tight junction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 60 Aplastic anemia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome; 218 Alport syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 225 Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus; 265 Lipodystrophy; 285 Fanconi anemia; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;
311	Toll-like receptor signaling pathway 💬	[1] JAK1 💬 Toll-like receptor signaling pathway × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Toll-like receptor signaling pathway × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 311. Toll-like receptor signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
312	Toxoplasmosis 💬	[2] JAK1, JAK2 💬 Toxoplasmosis × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Toxoplasmosis × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 312. Toxoplasmosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
313	Transcriptional misregulation in cancer 💬	[1] IGF1R 💬 Transcriptional misregulation in cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin 💬 Transcriptional misregulation in cancer × Name Other Names Mecasermin Mecasermin (USAN/INN) Mecasermin (genetical recombination) (JAN) Increlex (TN) Myotrophin (TN) INCRELEX	Mecasermin	[4] 96, 168, 265, 299 💬 313. Transcriptional misregulation in cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
314	Transcriptional misregulation in cancer 💬	[1] IGF1R 💬 Transcriptional misregulation in cancer × Name Full Name IGF1R insulin like growth factor 1 receptor	Mecasermin rinfabate 💬 Transcriptional misregulation in cancer × Name Other Names Mecasermin rinfabate Mecasermin rinfabate (USAN/INN) Iplex (TN)	Mecasermin	[4] 96, 168, 265, 299 💬 313. Transcriptional misregulation in cancer × Disease ID Name 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 168 Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS; 265 Lipodystrophy; 299 Cystic fibrosis;CF;
315	Transcriptional misregulation in cancer 💬	[1] NR1C3 💬 Transcriptional misregulation in cancer × Name Full Name NR1C3	Pioglitazone hydrochloride 💬 Transcriptional misregulation in cancer × Name Other Names Pioglitazone hydrochloride Pioglitazone hydrochloride (JP18/USP) Actos (TN) ACTOS PIOGLITAZONE PIOGLITAZONE HYDROCHLORIDE	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 315. Transcriptional misregulation in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
316	Transcriptional misregulation in cancer 💬	[1] NR1C3 💬 Transcriptional misregulation in cancer × Name Full Name NR1C3	Pioglitazone 💬 Transcriptional misregulation in cancer × Name Other Names Pioglitazone Pioglitazone (INN) Actos (TN)	Pioglitazone	[17]  2 ,  6 , 13, 15, 20, 46, 49, 65, 67, 81, 86, 96, 220, 229, 265, 298, 299 💬 315. Transcriptional misregulation in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 20 Adrenoleukodystrophy;ALD;Childhood cerebral ALD;CCALD;Adolescent cerebral ALD;AdoCALD;AdolCALD;Adrenomyeloneuropathy;AMN;Adult cerebral ALD;ACALD; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;Autosomal recessive PKD;ARPKD; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 86 Pulmonary arterial hypertension;PAH; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 220 Rapidly progressive glomerulonephritis; 229 Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;Alveolar proteinosis; 265 Lipodystrophy; 298 Hereditary pancreatitis;Chronic pancreatitis; 299 Cystic fibrosis;CF;
317	Transcriptional misregulation in cancer 💬	[1] NR1C3 💬 Transcriptional misregulation in cancer × Name Full Name NR1C3	Rosiglitazone maleate 💬 Transcriptional misregulation in cancer × Name Other Names Rosiglitazone maleate Rosiglitazone maleate (JAN/USP) Avandia (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 317. Transcriptional misregulation in cancer × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
318	Transcriptional misregulation in cancer 💬	[1] NR1C3 💬 Transcriptional misregulation in cancer × Name Full Name NR1C3	Rosiglitazone 💬 Transcriptional misregulation in cancer × Name Other Names Rosiglitazone Rosiglitazone (INN) Gaudil (TN)	Rosiglitazone	[6] 46, 75, 77, 97, 222, 265 💬 317. Transcriptional misregulation in cancer × Disease ID Name 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 75 Cushing disease;Cushing syndrome; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 265 Lipodystrophy;
319	Tuberculosis 💬	[2] JAK1, JAK2 💬 Tuberculosis × Name Full Name JAK1 Janus kinase 1 JAK2 Janus kinase 2	Baricitinib 💬 Tuberculosis × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 319. Tuberculosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;
320	Vascular smooth muscle contraction 💬	[1] ADORA2A 💬 Vascular smooth muscle contraction × Name Full Name ADORA2A adenosine A2a receptor	Caffeine 💬 Vascular smooth muscle contraction × Name Other Names Caffeine Caffeine (USP) Anhydrous caffeine (JP18) Anhydrous caffeine (TN) Respia (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 320. Vascular smooth muscle contraction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
321	Vascular smooth muscle contraction 💬	[1] ADORA2A 💬 Vascular smooth muscle contraction × Name Full Name ADORA2A adenosine A2a receptor	Caffeine hydrate 💬 Vascular smooth muscle contraction × Name Other Names Caffeine hydrate Caffeine hydrate (JP18) Caffeine monohydrate Caffeine (TN)	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 320. Vascular smooth muscle contraction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
322	Vascular smooth muscle contraction 💬	[1] ADORA2A 💬 Vascular smooth muscle contraction × Name Full Name ADORA2A adenosine A2a receptor	Caffeine citrate 💬 Vascular smooth muscle contraction × Name Other Names Caffeine citrate Caffeine citrate (USP) Cafcit (TN) CAFCIT CAFFEINE CITRATE CAFFEINE CITRATE ORAL SOLUTION	Caffeine	[8]  2 ,  6 , 13, 21, 46, 96, 97, 265 💬 320. Vascular smooth muscle contraction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 265 Lipodystrophy;
323	Viral carcinogenesis 💬	[1] JAK1 💬 Viral carcinogenesis × Name Full Name JAK1 Janus kinase 1	Baricitinib 💬 Viral carcinogenesis × Name Other Names Baricitinib Baricitinib (JAN/USAN/INN) Olumiant (TN) OLUMIANT	Baricitinib	[21]  2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬 323. Viral carcinogenesis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 84 Sarcoidosis; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 135 Aicardi syndrome; 162 Pemphigoid; 265 Lipodystrophy; 268 Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 325 Hereditary autoinflammatory syndrome;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20; 345 Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

Back to top