Target Gene/Pathway Pathway / Gene

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No.	KEGG PATHWAY On map, Yellow: Drug target, Red: All disease-related	KEGG GENES	KEGG DRUG	DrugBank	Disease ID
1	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 💬 1. 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;
2	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 💬 1. 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;
3	Adrenergic signaling in cardiomyocytes 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Adrenergic signaling in cardiomyocytes × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Adrenergic signaling in cardiomyocytes × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 3. Adrenergic signaling in cardiomyocytes × Disease ID Name 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;
4	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 💬 4. 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;
5	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 💬 4. 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;
6	Aldosterone synthesis and secretion 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Aldosterone synthesis and secretion × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Aldosterone synthesis and secretion × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 6. Aldosterone synthesis and secretion × Disease ID Name 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;
7	Aldosterone synthesis and secretion 💬	[1] MC2R 💬 Aldosterone synthesis and secretion × Name Full Name MC2R melanocortin 2 receptor	Corticotropin 💬 Aldosterone synthesis and secretion × Name Other Names Corticotropin Corticotropin (USP/INN) ACTH (TN) Acthar (TN) ACTHAR PURIFIED CORTROPHIN GEL	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 7. Aldosterone synthesis and 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
8	Aldosterone synthesis and secretion 💬	[1] MC2R 💬 Aldosterone synthesis and secretion × Name Full Name MC2R melanocortin 2 receptor	Corticotropin, repository 💬 Aldosterone synthesis and secretion × Name Other Names Corticotropin, repository Corticotropin, repository (USP) Cortigel (TN)	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 7. Aldosterone synthesis and 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
9	Aldosterone-regulated sodium reabsorption 💬	[1] NR3C2 💬 Aldosterone-regulated sodium reabsorption × Name Full Name NR3C2 nuclear receptor subfamily 3 group C member 2	Fludrocortisone acetate 💬 Aldosterone-regulated sodium reabsorption × Name Other Names Fludrocortisone acetate Fludrocortisone acetate (JP18/USP) Florinef acetate (TN)	Fludrocortisone	[3]  6 , 17, 81 💬 9. Aldosterone-regulated sodium reabsorption × Disease ID Name  6  Parkinson disease;Disease Parkinson's; 17 Multiple system atrophy;MSA;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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;
10	Aldosterone-regulated sodium reabsorption 💬	[1] NR3C2 💬 Aldosterone-regulated sodium reabsorption × Name Full Name NR3C2 nuclear receptor subfamily 3 group C member 2	Fludrocortisone 💬 Aldosterone-regulated sodium reabsorption × Name Other Names Fludrocortisone Fludrocortisone (INN) Astonin-H (TN)	Fludrocortisone	[3]  6 , 17, 81 💬 9. Aldosterone-regulated sodium reabsorption × Disease ID Name  6  Parkinson disease;Disease Parkinson's; 17 Multiple system atrophy;MSA;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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;
11	Alzheimer disease 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Alzheimer disease × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Alzheimer disease × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 11. Alzheimer disease × Disease ID Name 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;
12	Amphetamine addiction 💬	[2] CACNA1C, CACNA1D 💬 Amphetamine addiction × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D	Nifedipine 💬 Amphetamine addiction × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 12. Amphetamine addiction × Disease ID Name 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;
13	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 💬 13. 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;
14	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 💬 13. 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;
15	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 💬 15. 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;
16	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 💬 15. 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;
17	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 💬 17. 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;
18	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 💬 17. 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;
19	Arrhythmogenic right ventricular cardiomyopathy 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Arrhythmogenic right ventricular cardiomyopathy × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Arrhythmogenic right ventricular cardiomyopathy × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 19. Arrhythmogenic right ventricular cardiomyopathy × Disease ID Name 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;
20	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 💬 20. 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;
21	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 💬 20. 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;
22	Calcium signaling pathway 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Calcium signaling pathway × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Calcium signaling pathway × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 22. Calcium signaling pathway × Disease ID Name 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;
23	cAMP signaling pathway 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 cAMP signaling pathway × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 cAMP signaling pathway × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 23. cAMP signaling pathway × Disease ID Name 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;
24	cAMP signaling pathway 💬	[1] CRHR1 💬 cAMP signaling pathway × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Crinecerfont 💬 cAMP signaling pathway × Name Other Names Crinecerfont Crinecerfont (USAN) Crenessity (TN) CRENESSITY	Crinecerfont	[1] 81 💬 24. cAMP signaling pathway × Disease ID Name 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;
25	cAMP signaling pathway 💬	[1] CRHR1 💬 cAMP signaling pathway × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Tildacerfont 💬 cAMP signaling pathway × Name Other Names Tildacerfont Tildacerfont (USAN/INN)	Tildacerfont	[1] 81 💬 25. cAMP signaling pathway × Disease ID Name 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;
26	cAMP signaling pathway 💬	[1] MC2R 💬 cAMP signaling pathway × Name Full Name MC2R melanocortin 2 receptor	Corticotropin 💬 cAMP signaling pathway × Name Other Names Corticotropin Corticotropin (USP/INN) ACTH (TN) Acthar (TN) ACTHAR PURIFIED CORTROPHIN GEL	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 26. cAMP 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
27	cAMP signaling pathway 💬	[1] MC2R 💬 cAMP signaling pathway × Name Full Name MC2R melanocortin 2 receptor	Corticotropin, repository 💬 cAMP signaling pathway × Name Other Names Corticotropin, repository Corticotropin, repository (USP) Cortigel (TN)	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 26. cAMP 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
28	Carbohydrate digestion and absorption 💬	[1] CACNA1D 💬 Carbohydrate digestion and absorption × Name Full Name CACNA1D calcium voltage-gated channel subunit alpha1 D	Nifedipine 💬 Carbohydrate digestion and absorption × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 28. Carbohydrate digestion and absorption × Disease ID Name 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;
29	Cardiac muscle contraction 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Cardiac muscle contraction × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Cardiac muscle contraction × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 29. Cardiac muscle contraction × Disease ID Name 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;
30	Cellular senescence 💬	[1] CACNA1D 💬 Cellular senescence × Name Full Name CACNA1D calcium voltage-gated channel subunit alpha1 D	Nifedipine 💬 Cellular senescence × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 30. Cellular senescence × Disease ID Name 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;
31	cGMP-PKG signaling pathway 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 cGMP-PKG signaling pathway × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 cGMP-PKG signaling pathway × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 31. cGMP-PKG signaling pathway × Disease ID Name 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;
32	Chemical carcinogenesis - receptor activation 💬	[1] AR 💬 Chemical carcinogenesis - receptor activation × Name Full Name AR androgen receptor	Flutamide 💬 Chemical carcinogenesis - receptor activation × Name Other Names Flutamide Flutamide (JP18/USP/INN) Eulexin (TN)	Flutamide	[1] 81 💬 32. Chemical carcinogenesis - receptor activation × Disease ID Name 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;
33	Chemical carcinogenesis - receptor activation 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Chemical carcinogenesis - receptor activation × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Chemical carcinogenesis - receptor activation × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 33. Chemical carcinogenesis - receptor activation × Disease ID Name 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;
34	Cholinergic synapse 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Cholinergic synapse × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Cholinergic synapse × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 34. Cholinergic synapse × Disease ID Name 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;
35	Circadian entrainment 💬	[2] CACNA1C, CACNA1D 💬 Circadian entrainment × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D	Nifedipine 💬 Circadian entrainment × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 35. Circadian entrainment × Disease ID Name 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;
36	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 💬 36. 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;
37	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 💬 36. 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;
38	Cortisol synthesis and secretion 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Cortisol synthesis and secretion × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Cortisol synthesis and secretion × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 38. Cortisol synthesis and secretion × Disease ID Name 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;
39	Cortisol synthesis and secretion 💬	[1] CYP17A 💬 Cortisol synthesis and secretion × Name Full Name CYP17A	Abiraterone acetate 💬 Cortisol synthesis and secretion × Name Other Names Abiraterone acetate Abiraterone acetate (JAN/USP) Zytiga (TN) YONSA ZYTIGA ABIRATERONE ABIRATERONE ACETATE ABIRTEGA	Abiraterone	[2] 75, 81 💬 39. Cortisol synthesis and secretion × Disease ID Name 75 Cushing disease;Cushing syndrome; 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;
40	Cortisol synthesis and secretion 💬	[1] MC2R 💬 Cortisol synthesis and secretion × Name Full Name MC2R melanocortin 2 receptor	Corticotropin 💬 Cortisol synthesis and secretion × Name Other Names Corticotropin Corticotropin (USP/INN) ACTH (TN) Acthar (TN) ACTHAR PURIFIED CORTROPHIN GEL	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 40. Cortisol synthesis and 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
41	Cortisol synthesis and secretion 💬	[1] MC2R 💬 Cortisol synthesis and secretion × Name Full Name MC2R melanocortin 2 receptor	Corticotropin, repository 💬 Cortisol synthesis and secretion × Name Other Names Corticotropin, repository Corticotropin, repository (USP) Cortigel (TN)	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 40. Cortisol synthesis and 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
42	Cushing syndrome 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Cushing syndrome × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Cushing syndrome × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 42. Cushing syndrome × Disease ID Name 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;
43	Cushing syndrome 💬	[1] CRHR1 💬 Cushing syndrome × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Crinecerfont 💬 Cushing syndrome × Name Other Names Crinecerfont Crinecerfont (USAN) Crenessity (TN) CRENESSITY	Crinecerfont	[1] 81 💬 43. Cushing syndrome × Disease ID Name 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;
44	Cushing syndrome 💬	[1] CRHR1 💬 Cushing syndrome × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Tildacerfont 💬 Cushing syndrome × Name Other Names Tildacerfont Tildacerfont (USAN/INN)	Tildacerfont	[1] 81 💬 44. Cushing syndrome × Disease ID Name 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;
45	Cushing syndrome 💬	[1] CYP17A 💬 Cushing syndrome × Name Full Name CYP17A	Abiraterone acetate 💬 Cushing syndrome × Name Other Names Abiraterone acetate Abiraterone acetate (JAN/USP) Zytiga (TN) YONSA ZYTIGA ABIRATERONE ABIRATERONE ACETATE ABIRTEGA	Abiraterone	[2] 75, 81 💬 45. Cushing syndrome × Disease ID Name 75 Cushing disease;Cushing syndrome; 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;
46	Cushing syndrome 💬	[1] MC2R 💬 Cushing syndrome × Name Full Name MC2R melanocortin 2 receptor	Corticotropin 💬 Cushing syndrome × Name Other Names Corticotropin Corticotropin (USP/INN) ACTH (TN) Acthar (TN) ACTHAR PURIFIED CORTROPHIN GEL	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 46. Cushing syndrome × 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
47	Cushing syndrome 💬	[1] MC2R 💬 Cushing syndrome × Name Full Name MC2R melanocortin 2 receptor	Corticotropin, repository 💬 Cushing syndrome × Name Other Names Corticotropin, repository Corticotropin, repository (USP) Cortigel (TN)	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 46. Cushing syndrome × 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
48	Dilated cardiomyopathy 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Dilated cardiomyopathy × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Dilated cardiomyopathy × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 48. Dilated cardiomyopathy × Disease ID Name 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;
49	Dopaminergic synapse 💬	[2] CACNA1C, CACNA1D 💬 Dopaminergic synapse × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D	Nifedipine 💬 Dopaminergic synapse × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 49. Dopaminergic synapse × Disease ID Name 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;
50	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 💬 50. 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;
51	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 💬 50. 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;
52	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 💬 52. 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;
53	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 💬 52. 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;
54	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 💬 54. 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;
55	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 💬 54. 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;
56	GABAergic synapse 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 GABAergic synapse × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 GABAergic synapse × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 56. GABAergic synapse × Disease ID Name 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;
57	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 💬 57. 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;
58	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 💬 57. 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;
59	Glutamatergic synapse 💬	[2] CACNA1C, CACNA1D 💬 Glutamatergic synapse × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D	Nifedipine 💬 Glutamatergic synapse × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 59. Glutamatergic synapse × Disease ID Name 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;
60	GnRH secretion 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 GnRH secretion × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 GnRH secretion × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 60. GnRH secretion × Disease ID Name 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;
61	GnRH signaling pathway 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 GnRH signaling pathway × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 GnRH signaling pathway × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 61. GnRH signaling pathway × Disease ID Name 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;
62	Growth hormone synthesis, secretion and action 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Growth hormone synthesis, secretion and action × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Growth hormone synthesis, secretion and action × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 62. Growth hormone synthesis, secretion and action × Disease ID Name 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;
63	Hormone signaling 💬	[1] CRHR1 💬 Hormone signaling × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Crinecerfont 💬 Hormone signaling × Name Other Names Crinecerfont Crinecerfont (USAN) Crenessity (TN) CRENESSITY	Crinecerfont	[1] 81 💬 63. Hormone signaling × Disease ID Name 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;
64	Hormone signaling 💬	[1] CRHR1 💬 Hormone signaling × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Tildacerfont 💬 Hormone signaling × Name Other Names Tildacerfont Tildacerfont (USAN/INN)	Tildacerfont	[1] 81 💬 64. Hormone signaling × Disease ID Name 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;
65	Hormone signaling 💬	[1] MC2R 💬 Hormone signaling × Name Full Name MC2R melanocortin 2 receptor	Corticotropin 💬 Hormone signaling × Name Other Names Corticotropin Corticotropin (USP/INN) ACTH (TN) Acthar (TN) ACTHAR PURIFIED CORTROPHIN GEL	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 65. Hormone signaling × 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
66	Hormone signaling 💬	[1] MC2R 💬 Hormone signaling × Name Full Name MC2R melanocortin 2 receptor	Corticotropin, repository 💬 Hormone signaling × Name Other Names Corticotropin, repository Corticotropin, repository (USP) Cortigel (TN)	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 65. Hormone signaling × 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
67	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 💬 67. 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;
68	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 💬 67. 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;
69	Hypertrophic cardiomyopathy 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Hypertrophic cardiomyopathy × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Hypertrophic cardiomyopathy × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 69. Hypertrophic cardiomyopathy × Disease ID Name 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;
70	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 💬 70. 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;
71	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 💬 70. 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;
72	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 💬 72. 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;
73	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 💬 72. 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;
74	Insulin secretion 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Insulin secretion × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Insulin secretion × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 74. Insulin secretion × Disease ID Name 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;
75	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 💬 75. 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;
76	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 💬 75. 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;
77	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 💬 77. 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;
78	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 💬 77. 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;
79	Long-term depression 💬	[1] CRHR1 💬 Long-term depression × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Crinecerfont 💬 Long-term depression × Name Other Names Crinecerfont Crinecerfont (USAN) Crenessity (TN) CRENESSITY	Crinecerfont	[1] 81 💬 79. Long-term depression × Disease ID Name 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;
80	Long-term depression 💬	[1] CRHR1 💬 Long-term depression × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Tildacerfont 💬 Long-term depression × Name Other Names Tildacerfont Tildacerfont (USAN/INN)	Tildacerfont	[1] 81 💬 80. Long-term depression × Disease ID Name 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;
81	Long-term potentiation 💬	[1] CACNA1C 💬 Long-term potentiation × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C	Nifedipine 💬 Long-term potentiation × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 81. Long-term potentiation × Disease ID Name 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;
82	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 💬 82. 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;
83	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 💬 82. 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;
84	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 💬 84. 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;
85	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 💬 84. 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;
86	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 💬 86. 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;
87	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 💬 86. 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;
88	MAPK signaling pathway 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 MAPK signaling pathway × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 MAPK signaling pathway × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 88. MAPK signaling pathway × Disease ID Name 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;
89	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 💬 89. 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;
90	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 💬 89. 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;
91	Neuroactive ligand-receptor interaction 💬	[1] CRHR1 💬 Neuroactive ligand-receptor interaction × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Crinecerfont 💬 Neuroactive ligand-receptor interaction × Name Other Names Crinecerfont Crinecerfont (USAN) Crenessity (TN) CRENESSITY	Crinecerfont	[1] 81 💬 91. Neuroactive ligand-receptor interaction × Disease ID Name 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;
92	Neuroactive ligand-receptor interaction 💬	[1] CRHR1 💬 Neuroactive ligand-receptor interaction × Name Full Name CRHR1 corticotropin releasing hormone receptor 1	Tildacerfont 💬 Neuroactive ligand-receptor interaction × Name Other Names Tildacerfont Tildacerfont (USAN/INN)	Tildacerfont	[1] 81 💬 92. Neuroactive ligand-receptor interaction × Disease ID Name 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;
93	Neuroactive ligand-receptor interaction 💬	[1] MC2R 💬 Neuroactive ligand-receptor interaction × Name Full Name MC2R melanocortin 2 receptor	Corticotropin 💬 Neuroactive ligand-receptor interaction × Name Other Names Corticotropin Corticotropin (USP/INN) ACTH (TN) Acthar (TN) ACTHAR PURIFIED CORTROPHIN GEL	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 93. Neuroactive ligand-receptor interaction × 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
94	Neuroactive ligand-receptor interaction 💬	[1] MC2R 💬 Neuroactive ligand-receptor interaction × Name Full Name MC2R melanocortin 2 receptor	Corticotropin, repository 💬 Neuroactive ligand-receptor interaction × Name Other Names Corticotropin, repository Corticotropin, repository (USP) Cortigel (TN)	Corticotropin	[11] 13, 46, 50, 66, 75, 78, 81, 84, 145, 205, 222 💬 93. Neuroactive ligand-receptor interaction × 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; 50 Dermatomyositis;Polymyositis; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
95	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 nuclear receptor subfamily 3 group C member 1	Cortisone 💬 Neuroactive ligand-receptor interaction × Name Other Names Cortisone Cortisone (INN) Cortisone (TN)	Cortisone	[1] 81 💬 95. Neuroactive ligand-receptor interaction × Disease ID Name 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;
96	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 nuclear receptor subfamily 3 group C member 1	Cortisone acetate 💬 Neuroactive ligand-receptor interaction × Name Other Names Cortisone acetate Cortisone acetate (JP18/USP) Cortone acetate (TN)	Cortisone acetate	[1] 81 💬 96. Neuroactive ligand-receptor interaction × Disease ID Name 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;
97	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 nuclear receptor subfamily 3 group C member 1	Dexamethasone 💬 Neuroactive ligand-receptor interaction × Name Other Names Dexamethasone Dexamethasone (JP18/USP/INN) Decadron (TN) Maxidex (TN) DEXTENZA HEMADY MAXIDEX OZURDEX DEXAMETHASONE DEXAMETHASONE INTENSOL TAPERDEX 12-DAY TAPERDEX 6-DAY	Dexamethasone	[25] 13, 14, 16, 19, 28, 35, 53, 63, 64, 65, 70, 74, 75, 81, 84, 90, 96, 97, 162, 222, 235, 257, 296, 299, 331 💬 97. Neuroactive ligand-receptor interaction × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis; 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 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; 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; 162 Pemphigoid; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 235 Hypoparathyroidism;Accessory thyroid hypergasia disease; 257 Hepatic glycogenosis;Liver glycogenosis;Hepatic glycogen storage disease;Liver glycogen storage disease;Glycogen storage disease type I;GSDI;von Gierke disease;Glucose-6-phosphatase deficiency;G6Pase deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type VI;GSDVI;Hers disease;Hepatic phosphorylase deficiency;Liver phosphorylase deficiency;Glycogen storage disease type IX;GSDIX;Phosphorylase kinase deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Adult polyglucosan body disease; 296 Biliary atresia; 299 Cystic fibrosis;CF; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
98	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 nuclear receptor subfamily 3 group C member 1	Dexamethasone sodium phosphate 💬 Neuroactive ligand-receptor interaction × Name Other Names Dexamethasone sodium phosphate Dexamethasone sodium phosphate (JAN/USP) Dalalone (TN) Maxidex (TN)	Dexamethasone	[25] 13, 14, 16, 19, 28, 35, 53, 63, 64, 65, 70, 74, 75, 81, 84, 90, 96, 97, 162, 222, 235, 257, 296, 299, 331 💬 97. Neuroactive ligand-receptor interaction × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis; 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 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; 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; 162 Pemphigoid; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 235 Hypoparathyroidism;Accessory thyroid hypergasia disease; 257 Hepatic glycogenosis;Liver glycogenosis;Hepatic glycogen storage disease;Liver glycogen storage disease;Glycogen storage disease type I;GSDI;von Gierke disease;Glucose-6-phosphatase deficiency;G6Pase deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type VI;GSDVI;Hers disease;Hepatic phosphorylase deficiency;Liver phosphorylase deficiency;Glycogen storage disease type IX;GSDIX;Phosphorylase kinase deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Adult polyglucosan body disease; 296 Biliary atresia; 299 Cystic fibrosis;CF; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
99	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 nuclear receptor subfamily 3 group C member 1	Dexamethasone phosphate 💬 Neuroactive ligand-receptor interaction × Name Other Names Dexamethasone phosphate Dexamethasone phosphate Decadron-phosphate (TN)	Dexamethasone	[25] 13, 14, 16, 19, 28, 35, 53, 63, 64, 65, 70, 74, 75, 81, 84, 90, 96, 97, 162, 222, 235, 257, 296, 299, 331 💬 97. Neuroactive ligand-receptor interaction × Disease ID Name 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis; 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 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; 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; 162 Pemphigoid; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 235 Hypoparathyroidism;Accessory thyroid hypergasia disease; 257 Hepatic glycogenosis;Liver glycogenosis;Hepatic glycogen storage disease;Liver glycogen storage disease;Glycogen storage disease type I;GSDI;von Gierke disease;Glucose-6-phosphatase deficiency;G6Pase deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;Glycogen debranching enzyme deficiency;Glycogen storage disease type VI;GSDVI;Hers disease;Hepatic phosphorylase deficiency;Liver phosphorylase deficiency;Glycogen storage disease type IX;GSDIX;Phosphorylase kinase deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Adult polyglucosan body disease; 296 Biliary atresia; 299 Cystic fibrosis;CF; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
100	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 nuclear receptor subfamily 3 group C member 1	Hydrocortisone 💬 Neuroactive ligand-receptor interaction × Name Other Names Hydrocortisone Hydrocortisone (JP18/USP/INN) HC Acticort (TN) Anusol HC (TN) Colocort (TN) Cortef (TN) Hytone (TN) Plenadren (TN) ALKINDI CORTEF CORTENEMA KHINDIVI ALA-SCALP ALACORT ANUSOL HYDROCORTISONE HYDROCORTISONE CREAM HYDROCORTISONE RECTAL SUSPENSION PROCTO-MED HC PROCTOCORT PROCTOSOL-HC PROCTOZONE-HC TEXACORT	Hydrocortisone	[11]  6 , 41, 46, 53, 75, 78, 81, 83, 97, 98, 299 💬 100. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 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; 83 Addison disease;Primary chronic adrenocortical insufficiency; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 98 Eosinophilic gastro-intestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 299 Cystic fibrosis;CF;
101	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 nuclear receptor subfamily 3 group C member 1	Prednisolone 💬 Neuroactive ligand-receptor interaction × Name Other Names Prednisolone Prednisolone (JP18/USP/INN) Delta-cortef (TN)	Prednisolone	[41]  3 , 11, 13, 14, 18, 25, 26, 38, 39, 40, 41, 43, 44, 45, 46, 49, 50, 51, 54, 56, 60, 61, 63, 64, 66, 81, 84, 85, 95, 96, 97, 113, 145, 162, 222, 251, 269, 271, 296, 299, 300 💬 101. Neuroactive ligand-receptor interaction × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 39 Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 56 Behcet disease;Behçet disease;BD; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 251 Urea cycle disorder;N-acetylglutamate synthase deficiency;NAGS deficiency;Carbamoyl phosphate synthetase I deficiency;CPS1 deficiency;Ornithine transcarbamylase deficiency;OTC deficiency;Classic citrullinemia;Citrullinemia type I;Argininosuccinic aciduria;Argininemia;Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome;HHH syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 296 Biliary atresia; 299 Cystic fibrosis;CF; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
102	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 nuclear receptor subfamily 3 group C member 1	Prednisone 💬 Neuroactive ligand-receptor interaction × Name Other Names Prednisone Prednisone (USP) Prednisone monohydrate Deltasone (TN) Meticorten (TN) Rayos (TN) RAYOS P- PACK PREDNISONE 20MG, 7- DAY TAPERING DOSE PACK PREDNISONE PREDNISONE TABLETS, USP, 10 MG PREDNISONE TABLETS, USP, 20 MG PREDNISONE TABLETS, USP, 5 MG	Prednisone	[54]  2 , 11, 13, 14, 18, 19, 26, 28, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 60, 61, 63, 64, 65, 66, 79, 81, 84, 85, 86, 90, 93, 95, 96, 97, 113, 145, 162, 164, 205, 222, 224, 228, 251, 269, 283, 285, 288, 299, 300, 303, 307, 331 💬 102. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 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; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis; 35 Pemphigus; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 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; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 251 Urea cycle disorder;N-acetylglutamate synthase deficiency;NAGS deficiency;Carbamoyl phosphate synthetase I deficiency;CPS1 deficiency;Ornithine transcarbamylase deficiency;OTC deficiency;Classic citrullinemia;Citrullinemia type I;Argininosuccinic aciduria;Argininemia;Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome;HHH syndrome; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 285 Fanconi anemia; 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; 299 Cystic fibrosis;CF; 300 IgG4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 303 Usher syndrome; 307 Canavan disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
103	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 💬 103. 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;
104	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 💬 103. 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;
105	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 💬 105. 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;
106	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 💬 105. 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;
107	Oocyte meiosis 💬	[1] AR 💬 Oocyte meiosis × Name Full Name AR androgen receptor	Flutamide 💬 Oocyte meiosis × Name Other Names Flutamide Flutamide (JP18/USP/INN) Eulexin (TN)	Flutamide	[1] 81 💬 107. Oocyte meiosis × Disease ID Name 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;
108	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 💬 108. 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;
109	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 💬 108. 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;
110	Ovarian steroidogenesis 💬	[1] CYP17A 💬 Ovarian steroidogenesis × Name Full Name CYP17A	Abiraterone acetate 💬 Ovarian steroidogenesis × Name Other Names Abiraterone acetate Abiraterone acetate (JAN/USP) Zytiga (TN) YONSA ZYTIGA ABIRATERONE ABIRATERONE ACETATE ABIRTEGA	Abiraterone	[2] 75, 81 💬 110. Ovarian steroidogenesis × Disease ID Name 75 Cushing disease;Cushing syndrome; 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;
111	Ovarian steroidogenesis 💬	[1] CYP19A 💬 Ovarian steroidogenesis × Name Full Name CYP19A	Letrozole 💬 Ovarian steroidogenesis × Name Other Names Letrozole Letrozole (JAN/USP/INN) Femara (TN) FEMARA LETROZOLE	Letrozole	[2] 81, 89 💬 111. Ovarian steroidogenesis × Disease ID Name 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; 89 Lymphangioleiomyomatosis;LAM;
112	Oxytocin signaling pathway 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Oxytocin signaling pathway × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Oxytocin signaling pathway × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 112. Oxytocin signaling pathway × Disease ID Name 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;
113	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 💬 113. 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;
114	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 💬 113. 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;
115	Pathways in cancer 💬	[1] AR 💬 Pathways in cancer × Name Full Name AR androgen receptor	Flutamide 💬 Pathways in cancer × Name Other Names Flutamide Flutamide (JP18/USP/INN) Eulexin (TN)	Flutamide	[1] 81 💬 115. Pathways in cancer × Disease ID Name 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;
116	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 💬 116. 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;
117	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 💬 116. 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;
118	Pathways of neurodegeneration - multiple diseases 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 118. Pathways of neurodegeneration - multiple diseases × Disease ID Name 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;
119	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 💬 119. 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;
120	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 💬 119. 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;
121	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 💬 121. 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;
122	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 💬 121. 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;
123	Prion disease 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Prion disease × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Prion disease × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 123. Prion disease × Disease ID Name 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;
124	Prolactin signaling pathway 💬	[1] CYP17A 💬 Prolactin signaling pathway × Name Full Name CYP17A	Abiraterone acetate 💬 Prolactin signaling pathway × Name Other Names Abiraterone acetate Abiraterone acetate (JAN/USP) Zytiga (TN) YONSA ZYTIGA ABIRATERONE ABIRATERONE ACETATE ABIRTEGA	Abiraterone	[2] 75, 81 💬 124. Prolactin signaling pathway × Disease ID Name 75 Cushing disease;Cushing syndrome; 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;
125	Prostate cancer 💬	[1] AR 💬 Prostate cancer × Name Full Name AR androgen receptor	Flutamide 💬 Prostate cancer × Name Other Names Flutamide Flutamide (JP18/USP/INN) Eulexin (TN)	Flutamide	[1] 81 💬 125. Prostate cancer × Disease ID Name 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;
126	Renin secretion 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Renin secretion × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Renin secretion × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 126. Renin secretion × Disease ID Name 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;
127	Retrograde endocannabinoid signaling 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Retrograde endocannabinoid signaling × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Retrograde endocannabinoid signaling × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 127. Retrograde endocannabinoid signaling × Disease ID Name 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;
128	Serotonergic synapse 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Serotonergic synapse × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Serotonergic synapse × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 128. Serotonergic synapse × Disease ID Name 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;
129	Steroid hormone biosynthesis 💬	[1] CYP17A 💬 Steroid hormone biosynthesis × Name Full Name CYP17A	Abiraterone acetate 💬 Steroid hormone biosynthesis × Name Other Names Abiraterone acetate Abiraterone acetate (JAN/USP) Zytiga (TN) YONSA ZYTIGA ABIRATERONE ABIRATERONE ACETATE ABIRTEGA	Abiraterone	[2] 75, 81 💬 129. Steroid hormone biosynthesis × Disease ID Name 75 Cushing disease;Cushing syndrome; 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;
130	Steroid hormone biosynthesis 💬	[1] CYP19A 💬 Steroid hormone biosynthesis × Name Full Name CYP19A	Letrozole 💬 Steroid hormone biosynthesis × Name Other Names Letrozole Letrozole (JAN/USP/INN) Femara (TN) FEMARA LETROZOLE	Letrozole	[2] 81, 89 💬 130. Steroid hormone biosynthesis × Disease ID Name 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; 89 Lymphangioleiomyomatosis;LAM;
131	Taste transduction 💬	[1] CACNA1C 💬 Taste transduction × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C	Nifedipine 💬 Taste transduction × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 131. Taste transduction × Disease ID Name 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;
132	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 💬 132. 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;
133	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 💬 132. 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;
134	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 💬 134. 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;
135	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 💬 134. 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;
136	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 💬 136. 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;
137	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 💬 136. 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;
138	Tight junction 💬	[1] CACNA1D 💬 Tight junction × Name Full Name CACNA1D calcium voltage-gated channel subunit alpha1 D	Nifedipine 💬 Tight junction × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 138. Tight junction × Disease ID Name 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;
139	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 💬 139. 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;
140	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 💬 139. 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;
141	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 💬 141. 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;
142	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 💬 141. 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;
143	Type II diabetes mellitus 💬	[2] CACNA1C, CACNA1D 💬 Type II diabetes mellitus × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D	Nifedipine 💬 Type II diabetes mellitus × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 143. Type II diabetes mellitus × Disease ID Name 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;
144	Vascular smooth muscle contraction 💬	[4] CACNA1C, CACNA1D, CACNA1F, CACNA1S 💬 Vascular smooth muscle contraction × Name Full Name CACNA1C calcium voltage-gated channel subunit alpha1 C CACNA1D calcium voltage-gated channel subunit alpha1 D CACNA1F calcium voltage-gated channel subunit alpha1 F CACNA1S calcium voltage-gated channel subunit alpha1 S	Nifedipine 💬 Vascular smooth muscle contraction × Name Other Names Nifedipine Nifedipine (JP18/USP/INN) Adalat (TN) Afeditab CR (TN) Procardia (TN) PROCARDIA NIFEDIPINE	Nifedipine	[1] 81 💬 144. Vascular smooth muscle contraction × Disease ID Name 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;

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