Target Gene/Pathway Pathway / Gene

---

Search results

---

No.	KEGG PATHWAY On map, Yellow: Drug target, Red: All disease-related	KEGG GENES	KEGG DRUG	DrugBank	Disease ID
1	Adrenergic signaling in cardiomyocytes 💬	[1] SCN5A 💬 Adrenergic signaling in cardiomyocytes × Name Full Name SCN5A sodium channel protein type 5 subunit alpha isoform a	Carbamazepine 💬 Adrenergic signaling in cardiomyocytes × Name Other Names Carbamazepine Equetro Tegretol CARBATROL CARBAMAZEPINE ER	Carbamazepine	[6]  6 , 13, 137, 145, 158, 231 💬 1. Adrenergic signaling in cardiomyocytes × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 231 Alpha-1-antitrypsin deficiency;AATD;
2	Alanine, aspartate and glutamate metabolism 💬	[1] ABAT 💬 Alanine, aspartate and glutamate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Vigabatrin 💬 Alanine, aspartate and glutamate metabolism × Name Other Names Vigabatrin Sabril VIGAFYDE VIGABATRIN FOR ORAL SOLUTION VIGADRONE	Vigabatrin	[2] 145, 158 💬 2. Alanine, aspartate and glutamate metabolism × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
3	Alanine, aspartate and glutamate metabolism 💬	[4] ABAT, ALDH5A1, GAD1, GAD2 💬 Alanine, aspartate and glutamate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor ALDH5A1 succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Divalproex sodium 💬 Alanine, aspartate and glutamate metabolism × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 3. Alanine, aspartate and glutamate metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
4	Alanine, aspartate and glutamate metabolism 💬	[4] ABAT, ALDH5A1, GAD1, GAD2 💬 Alanine, aspartate and glutamate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor ALDH5A1 succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproic acid 💬 Alanine, aspartate and glutamate metabolism × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 3. Alanine, aspartate and glutamate metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
5	Alanine, aspartate and glutamate metabolism 💬	[4] ABAT, ALDH5A1, GAD1, GAD2 💬 Alanine, aspartate and glutamate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor ALDH5A1 succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproate sodium 💬 Alanine, aspartate and glutamate metabolism × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 3. Alanine, aspartate and glutamate metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
6	Alcoholism 💬	[1] GRIN2B 💬 Alcoholism × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Alcoholism × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 6. Alcoholism × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
7	Aldosterone synthesis and secretion 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Aldosterone synthesis and secretion × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Divalproex sodium 💬 Aldosterone synthesis and secretion × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 7. Aldosterone synthesis and secretion × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
8	Aldosterone synthesis and secretion 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Aldosterone synthesis and secretion × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproic acid 💬 Aldosterone synthesis and secretion × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 7. Aldosterone synthesis and secretion × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
9	Aldosterone synthesis and secretion 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Aldosterone synthesis and secretion × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproate sodium 💬 Aldosterone synthesis and secretion × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 7. Aldosterone synthesis and secretion × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
10	Aldosterone synthesis and secretion 💬	[1] MC2R 💬 Aldosterone synthesis and secretion × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin 💬 Aldosterone synthesis and secretion × Name Other Names Corticotropin ACTH Acthar PURIFIED CORTROPHIN GEL	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 10. Aldosterone synthesis and secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
11	Aldosterone synthesis and secretion 💬	[1] MC2R 💬 Aldosterone synthesis and secretion × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin, repository 💬 Aldosterone synthesis and secretion × Name Other Names Corticotropin, repository Cortigel	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 10. Aldosterone synthesis and secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
12	Aldosterone synthesis and secretion 💬	[1] MC2R 💬 Aldosterone synthesis and secretion × Name Full Name MC2R adrenocorticotropic hormone receptor	Cosyntropin 💬 Aldosterone synthesis and secretion × Name Other Names Cosyntropin Tetracosactide Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 12. Aldosterone synthesis and secretion × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
13	Aldosterone synthesis and secretion 💬	[1] MC2R 💬 Aldosterone synthesis and secretion × Name Full Name MC2R adrenocorticotropic hormone receptor	Tetracosactide acetate 💬 Aldosterone synthesis and secretion × Name Other Names Tetracosactide acetate Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 12. Aldosterone synthesis and secretion × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
14	Alzheimer disease 💬	[1] GRIN2B 💬 Alzheimer disease × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Alzheimer disease × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 14. Alzheimer disease × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
15	Amphetamine addiction 💬	[1] GRIN2B 💬 Amphetamine addiction × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Amphetamine addiction × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 15. Amphetamine addiction × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
16	Amyotrophic lateral sclerosis 💬	[1] GRIN2B 💬 Amyotrophic lateral sclerosis × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Amyotrophic lateral sclerosis × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 16. Amyotrophic lateral sclerosis × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
17	Amyotrophic lateral sclerosis 💬	[1] SIGMAR1 💬 Amyotrophic lateral sclerosis × Name Full Name SIGMAR1 sigma non-opioid intracellular receptor 1 isoform 1	Fenfluramine hydrochloride 💬 Amyotrophic lateral sclerosis × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 17. Amyotrophic lateral sclerosis × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
18	Amyotrophic lateral sclerosis 💬	[1] SIGMAR1 💬 Amyotrophic lateral sclerosis × Name Full Name SIGMAR1 sigma non-opioid intracellular receptor 1 isoform 1	Fenfluramine 💬 Amyotrophic lateral sclerosis × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 17. Amyotrophic lateral sclerosis × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
19	beta-Alanine metabolism 💬	[1] ABAT 💬 beta-Alanine metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Vigabatrin 💬 beta-Alanine metabolism × Name Other Names Vigabatrin Sabril VIGAFYDE VIGABATRIN FOR ORAL SOLUTION VIGADRONE	Vigabatrin	[2] 145, 158 💬 19. beta-Alanine metabolism × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
20	beta-Alanine metabolism 💬	[3] ABAT, GAD1, GAD2 💬 beta-Alanine metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Divalproex sodium 💬 beta-Alanine metabolism × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 20. beta-Alanine metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
21	beta-Alanine metabolism 💬	[3] ABAT, GAD1, GAD2 💬 beta-Alanine metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproic acid 💬 beta-Alanine metabolism × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 20. beta-Alanine metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
22	beta-Alanine metabolism 💬	[3] ABAT, GAD1, GAD2 💬 beta-Alanine metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproate sodium 💬 beta-Alanine metabolism × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 20. beta-Alanine metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
23	Butanoate metabolism 💬	[1] ABAT 💬 Butanoate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Vigabatrin 💬 Butanoate metabolism × Name Other Names Vigabatrin Sabril VIGAFYDE VIGABATRIN FOR ORAL SOLUTION VIGADRONE	Vigabatrin	[2] 145, 158 💬 23. Butanoate metabolism × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
24	Butanoate metabolism 💬	[4] ABAT, ALDH5A1, GAD1, GAD2 💬 Butanoate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor ALDH5A1 succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Divalproex sodium 💬 Butanoate metabolism × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 24. Butanoate metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
25	Butanoate metabolism 💬	[4] ABAT, ALDH5A1, GAD1, GAD2 💬 Butanoate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor ALDH5A1 succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproic acid 💬 Butanoate metabolism × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 24. Butanoate metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
26	Butanoate metabolism 💬	[4] ABAT, ALDH5A1, GAD1, GAD2 💬 Butanoate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor ALDH5A1 succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproate sodium 💬 Butanoate metabolism × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 24. Butanoate metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
27	Cadherin signaling 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Cadherin signaling × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Ganaxolone 💬 Cadherin signaling × Name Other Names Ganaxolone Ztalmy	Ganaxolone	[4] 145, 152, 158, 206 💬 27. Cadherin signaling × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 152 PCDH19-related syndrome;PCDH19-related epilepsy syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19 related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome;
28	Cadherin signaling 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Cadherin signaling × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Nitrazepam 💬 Cadherin signaling × Name Other Names Nitrazepam Benzalin	Nitrazepam	[1] 145 💬 28. Cadherin signaling × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
29	Cadherin signaling 💬	[1] SCN5A 💬 Cadherin signaling × Name Full Name SCN5A sodium channel protein type 5 subunit alpha isoform a	Carbamazepine 💬 Cadherin signaling × Name Other Names Carbamazepine Equetro Tegretol CARBATROL CARBAMAZEPINE ER	Carbamazepine	[6]  6 , 13, 137, 145, 158, 231 💬 29. Cadherin signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 231 Alpha-1-antitrypsin deficiency;AATD;
30	Calcium signaling pathway 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Calcium signaling pathway × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Divalproex sodium 💬 Calcium signaling pathway × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 30. Calcium signaling pathway × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
31	Calcium signaling pathway 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Calcium signaling pathway × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproic acid 💬 Calcium signaling pathway × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 30. Calcium signaling pathway × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
32	Calcium signaling pathway 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Calcium signaling pathway × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproate sodium 💬 Calcium signaling pathway × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 30. Calcium signaling pathway × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
33	Calcium signaling pathway 💬	[1] GRIN2B 💬 Calcium signaling pathway × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Calcium signaling pathway × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 33. Calcium signaling pathway × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
34	Calcium signaling pathway 💬	[1] HRH2 💬 Calcium signaling pathway × Name Full Name HRH2 histamine H2 receptor isoform 1	Famotidine 💬 Calcium signaling pathway × Name Other Names Famotidine Fluxid Pepcid	Famotidine	[7]  6 , 46, 86, 98, 107, 145, 300 💬 34. Calcium signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 86 Pulmonary arterial hypertension;PAH; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal 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; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
35	Calcium signaling pathway 💬	[2] HTR2A, HTR2C 💬 Calcium signaling pathway × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor	Fenfluramine hydrochloride 💬 Calcium signaling pathway × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 35. Calcium signaling pathway × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
36	Calcium signaling pathway 💬	[2] HTR2A, HTR2C 💬 Calcium signaling pathway × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor	Fenfluramine 💬 Calcium signaling pathway × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 35. Calcium signaling pathway × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
37	cAMP signaling pathway 💬	[1] GRIN2B 💬 cAMP signaling pathway × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 cAMP signaling pathway × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 37. cAMP signaling pathway × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
38	cAMP signaling pathway 💬	[1] HTR1D 💬 cAMP signaling pathway × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D	Fenfluramine hydrochloride 💬 cAMP signaling pathway × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 38. cAMP signaling pathway × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
39	cAMP signaling pathway 💬	[1] HTR1D 💬 cAMP signaling pathway × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D	Fenfluramine 💬 cAMP signaling pathway × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 38. cAMP signaling pathway × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
40	cAMP signaling pathway 💬	[1] MC2R 💬 cAMP signaling pathway × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin 💬 cAMP signaling pathway × Name Other Names Corticotropin ACTH Acthar PURIFIED CORTROPHIN GEL	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 40. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
41	cAMP signaling pathway 💬	[1] MC2R 💬 cAMP signaling pathway × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin, repository 💬 cAMP signaling pathway × Name Other Names Corticotropin, repository Cortigel	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 40. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
42	cAMP signaling pathway 💬	[1] MC2R 💬 cAMP signaling pathway × Name Full Name MC2R adrenocorticotropic hormone receptor	Cosyntropin 💬 cAMP signaling pathway × Name Other Names Cosyntropin Tetracosactide Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 42. cAMP signaling pathway × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
43	cAMP signaling pathway 💬	[1] MC2R 💬 cAMP signaling pathway × Name Full Name MC2R adrenocorticotropic hormone receptor	Tetracosactide acetate 💬 cAMP signaling pathway × Name Other Names Tetracosactide acetate Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 42. cAMP signaling pathway × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
44	Circadian entrainment 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Circadian entrainment × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Divalproex sodium 💬 Circadian entrainment × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 44. Circadian entrainment × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
45	Circadian entrainment 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Circadian entrainment × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproic acid 💬 Circadian entrainment × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 44. Circadian entrainment × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
46	Circadian entrainment 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Circadian entrainment × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproate sodium 💬 Circadian entrainment × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 44. Circadian entrainment × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
47	Circadian entrainment 💬	[1] GRIN2B 💬 Circadian entrainment × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Circadian entrainment × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 47. Circadian entrainment × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
48	Circadian entrainment 💬	[2] MTNR1A, MTNR1B 💬 Circadian entrainment × Name Full Name MTNR1A melatonin receptor type 1A MTNR1B melatonin receptor type 1B	Melatonin 💬 Circadian entrainment × Name Other Names Melatonin Melatonina Melatobel	Melatonin	[18]  2 ,  6 ,  8 , 13, 37, 46, 49, 72, 78, 86, 90, 96, 97, 145, 149, 159, 202, 265 💬 48. Circadian entrainment × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Disorders of antidiuretic hormone (ADH) secretion;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 86 Pulmonary arterial hypertension;PAH; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 159 Xeroderma pigmentosum;XP; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
49	Cocaine addiction 💬	[1] GRIN2B 💬 Cocaine addiction × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Cocaine addiction × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 49. Cocaine addiction × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
50	Cortisol synthesis and secretion 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Cortisol synthesis and secretion × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Divalproex sodium 💬 Cortisol synthesis and secretion × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 50. Cortisol synthesis and secretion × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
51	Cortisol synthesis and secretion 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Cortisol synthesis and secretion × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproic acid 💬 Cortisol synthesis and secretion × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 50. Cortisol synthesis and secretion × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
52	Cortisol synthesis and secretion 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Cortisol synthesis and secretion × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproate sodium 💬 Cortisol synthesis and secretion × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 50. Cortisol synthesis and secretion × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
53	Cortisol synthesis and secretion 💬	[1] MC2R 💬 Cortisol synthesis and secretion × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin 💬 Cortisol synthesis and secretion × Name Other Names Corticotropin ACTH Acthar PURIFIED CORTROPHIN GEL	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 53. Cortisol synthesis and secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
54	Cortisol synthesis and secretion 💬	[1] MC2R 💬 Cortisol synthesis and secretion × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin, repository 💬 Cortisol synthesis and secretion × Name Other Names Corticotropin, repository Cortigel	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 53. Cortisol synthesis and secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
55	Cortisol synthesis and secretion 💬	[1] MC2R 💬 Cortisol synthesis and secretion × Name Full Name MC2R adrenocorticotropic hormone receptor	Cosyntropin 💬 Cortisol synthesis and secretion × Name Other Names Cosyntropin Tetracosactide Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 55. Cortisol synthesis and secretion × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
56	Cortisol synthesis and secretion 💬	[1] MC2R 💬 Cortisol synthesis and secretion × Name Full Name MC2R adrenocorticotropic hormone receptor	Tetracosactide acetate 💬 Cortisol synthesis and secretion × Name Other Names Tetracosactide acetate Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 55. Cortisol synthesis and secretion × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
57	Cushing syndrome 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Cushing syndrome × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Divalproex sodium 💬 Cushing syndrome × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 57. Cushing syndrome × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
58	Cushing syndrome 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Cushing syndrome × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproic acid 💬 Cushing syndrome × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 57. Cushing syndrome × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
59	Cushing syndrome 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 Cushing syndrome × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproate sodium 💬 Cushing syndrome × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 57. Cushing syndrome × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
60	Cushing syndrome 💬	[1] MC2R 💬 Cushing syndrome × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin 💬 Cushing syndrome × Name Other Names Corticotropin ACTH Acthar PURIFIED CORTROPHIN GEL	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 60. Cushing syndrome × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
61	Cushing syndrome 💬	[1] MC2R 💬 Cushing syndrome × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin, repository 💬 Cushing syndrome × Name Other Names Corticotropin, repository Cortigel	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 60. Cushing syndrome × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
62	Cushing syndrome 💬	[1] MC2R 💬 Cushing syndrome × Name Full Name MC2R adrenocorticotropic hormone receptor	Cosyntropin 💬 Cushing syndrome × Name Other Names Cosyntropin Tetracosactide Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 62. Cushing syndrome × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
63	Cushing syndrome 💬	[1] MC2R 💬 Cushing syndrome × Name Full Name MC2R adrenocorticotropic hormone receptor	Tetracosactide acetate 💬 Cushing syndrome × Name Other Names Tetracosactide acetate Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 62. Cushing syndrome × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
64	Dopaminergic synapse 💬	[1] GRIN2B 💬 Dopaminergic synapse × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Dopaminergic synapse × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 64. Dopaminergic synapse × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
65	Dopaminergic synapse 💬	[1] SCN1A 💬 Dopaminergic synapse × Name Full Name SCN1A sodium channel protein type 1 subunit alpha isoform 1	Carbamazepine 💬 Dopaminergic synapse × Name Other Names Carbamazepine Equetro Tegretol CARBATROL CARBAMAZEPINE ER	Carbamazepine	[6]  6 , 13, 137, 145, 158, 231 💬 65. Dopaminergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 231 Alpha-1-antitrypsin deficiency;AATD;
66	GABAergic synapse 💬	[1] ABAT 💬 GABAergic synapse × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Vigabatrin 💬 GABAergic synapse × Name Other Names Vigabatrin Sabril VIGAFYDE VIGABATRIN FOR ORAL SOLUTION VIGADRONE	Vigabatrin	[2] 145, 158 💬 66. GABAergic synapse × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
67	GABAergic synapse 💬	[3] ABAT, GAD1, GAD2 💬 GABAergic synapse × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Divalproex sodium 💬 GABAergic synapse × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 67. GABAergic synapse × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
68	GABAergic synapse 💬	[3] ABAT, GAD1, GAD2 💬 GABAergic synapse × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproic acid 💬 GABAergic synapse × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 67. GABAergic synapse × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
69	GABAergic synapse 💬	[3] ABAT, GAD1, GAD2 💬 GABAergic synapse × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproate sodium 💬 GABAergic synapse × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 67. GABAergic synapse × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
70	GABAergic synapse 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 GABAergic synapse × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Ganaxolone 💬 GABAergic synapse × Name Other Names Ganaxolone Ztalmy	Ganaxolone	[4] 145, 152, 158, 206 💬 70. GABAergic synapse × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 152 PCDH19-related syndrome;PCDH19-related epilepsy syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19 related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome;
71	GABAergic synapse 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 GABAergic synapse × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Nitrazepam 💬 GABAergic synapse × Name Other Names Nitrazepam Benzalin	Nitrazepam	[1] 145 💬 71. GABAergic synapse × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
72	Gap junction 💬	[2] HTR2A, HTR2C 💬 Gap junction × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor	Fenfluramine hydrochloride 💬 Gap junction × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 72. Gap junction × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
73	Gap junction 💬	[2] HTR2A, HTR2C 💬 Gap junction × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor	Fenfluramine 💬 Gap junction × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 72. Gap junction × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
74	Gastric acid secretion 💬	[1] HRH2 💬 Gastric acid secretion × Name Full Name HRH2 histamine H2 receptor isoform 1	Famotidine 💬 Gastric acid secretion × Name Other Names Famotidine Fluxid Pepcid	Famotidine	[7]  6 , 46, 86, 98, 107, 145, 300 💬 74. Gastric acid secretion × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 86 Pulmonary arterial hypertension;PAH; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal 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; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
75	Glutamatergic synapse 💬	[1] GRIN2B 💬 Glutamatergic synapse × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Glutamatergic synapse × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 75. Glutamatergic synapse × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
76	GnRH secretion 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 GnRH secretion × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Divalproex sodium 💬 GnRH secretion × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 76. GnRH secretion × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
77	GnRH secretion 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 GnRH secretion × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproic acid 💬 GnRH secretion × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 76. GnRH secretion × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
78	GnRH secretion 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 GnRH secretion × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproate sodium 💬 GnRH secretion × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 76. GnRH secretion × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
79	Hormone signaling 💬	[1] MC2R 💬 Hormone signaling × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin 💬 Hormone signaling × Name Other Names Corticotropin ACTH Acthar PURIFIED CORTROPHIN GEL	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 79. Hormone signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
80	Hormone signaling 💬	[1] MC2R 💬 Hormone signaling × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin, repository 💬 Hormone signaling × Name Other Names Corticotropin, repository Cortigel	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 79. Hormone signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
81	Hormone signaling 💬	[1] MC2R 💬 Hormone signaling × Name Full Name MC2R adrenocorticotropic hormone receptor	Cosyntropin 💬 Hormone signaling × Name Other Names Cosyntropin Tetracosactide Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 81. Hormone signaling × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
82	Hormone signaling 💬	[1] MC2R 💬 Hormone signaling × Name Full Name MC2R adrenocorticotropic hormone receptor	Tetracosactide acetate 💬 Hormone signaling × Name Other Names Tetracosactide acetate Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 81. Hormone signaling × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
83	Huntington disease 💬	[1] GRIN2B 💬 Huntington disease × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Huntington disease × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 83. Huntington disease × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
84	IgSF CAM signaling 💬	[1] SCN8A 💬 IgSF CAM signaling × Name Full Name SCN8A sodium channel protein type 8 subunit alpha isoform 3	Carbamazepine 💬 IgSF CAM signaling × Name Other Names Carbamazepine Equetro Tegretol CARBATROL CARBAMAZEPINE ER	Carbamazepine	[6]  6 , 13, 137, 145, 158, 231 💬 84. IgSF CAM signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 231 Alpha-1-antitrypsin deficiency;AATD;
85	Inflammatory mediator regulation of TRP channels 💬	[2] HTR2A, HTR2C 💬 Inflammatory mediator regulation of TRP channels × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor	Fenfluramine hydrochloride 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 85. Inflammatory mediator regulation of TRP channels × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
86	Inflammatory mediator regulation of TRP channels 💬	[2] HTR2A, HTR2C 💬 Inflammatory mediator regulation of TRP channels × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor	Fenfluramine 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 85. Inflammatory mediator regulation of TRP channels × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
87	Long-term potentiation 💬	[1] GRIN2B 💬 Long-term potentiation × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Long-term potentiation × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 87. Long-term potentiation × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
88	MAPK signaling pathway 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 MAPK signaling pathway × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Divalproex sodium 💬 MAPK signaling pathway × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 88. MAPK signaling pathway × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
89	MAPK signaling pathway 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 MAPK signaling pathway × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproic acid 💬 MAPK signaling pathway × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 88. MAPK signaling pathway × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
90	MAPK signaling pathway 💬	[3] CACNA1G, CACNA1H, CACNA1I 💬 MAPK signaling pathway × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1 CACNA1H voltage-dependent T-type calcium channel subunit alpha-1H isoform a CACNA1I voltage-dependent T-type calcium channel subunit alpha-1I isoform a	Valproate sodium 💬 MAPK signaling pathway × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 88. MAPK signaling pathway × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
91	Morphine addiction 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Morphine addiction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Ganaxolone 💬 Morphine addiction × Name Other Names Ganaxolone Ztalmy	Ganaxolone	[4] 145, 152, 158, 206 💬 91. Morphine addiction × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 152 PCDH19-related syndrome;PCDH19-related epilepsy syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19 related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome;
92	Morphine addiction 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Morphine addiction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Nitrazepam 💬 Morphine addiction × Name Other Names Nitrazepam Benzalin	Nitrazepam	[1] 145 💬 92. Morphine addiction × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
93	Neuroactive ligand signaling 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Neuroactive ligand signaling × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Ganaxolone 💬 Neuroactive ligand signaling × Name Other Names Ganaxolone Ztalmy	Ganaxolone	[4] 145, 152, 158, 206 💬 93. Neuroactive ligand signaling × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 152 PCDH19-related syndrome;PCDH19-related epilepsy syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19 related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome;
94	Neuroactive ligand signaling 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Neuroactive ligand signaling × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Nitrazepam 💬 Neuroactive ligand signaling × Name Other Names Nitrazepam Benzalin	Nitrazepam	[1] 145 💬 94. Neuroactive ligand signaling × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
95	Neuroactive ligand signaling 💬	[1] GRIN2B 💬 Neuroactive ligand signaling × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Neuroactive ligand signaling × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 95. Neuroactive ligand signaling × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
96	Neuroactive ligand signaling 💬	[1] HRH2 💬 Neuroactive ligand signaling × Name Full Name HRH2 histamine H2 receptor isoform 1	Famotidine 💬 Neuroactive ligand signaling × Name Other Names Famotidine Fluxid Pepcid	Famotidine	[7]  6 , 46, 86, 98, 107, 145, 300 💬 96. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 86 Pulmonary arterial hypertension;PAH; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal 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; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
97	Neuroactive ligand signaling 💬	[4] HTR1D, HTR2A, HTR2C, SLC6A4 💬 Neuroactive ligand signaling × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor SLC6A4 sodium-dependent serotonin transporter	Fenfluramine hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 97. Neuroactive ligand signaling × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
98	Neuroactive ligand signaling 💬	[4] HTR1D, HTR2A, HTR2C, SLC6A4 💬 Neuroactive ligand signaling × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor SLC6A4 sodium-dependent serotonin transporter	Fenfluramine 💬 Neuroactive ligand signaling × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 97. Neuroactive ligand signaling × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
99	Neuroactive ligand-receptor interaction 💬	[2] CNR1, CNR2 💬 Neuroactive ligand-receptor interaction × Name Full Name CNR1 cannabinoid receptor 1 isoform a CNR2 cannabinoid receptor 2	Cannabidiol 💬 Neuroactive ligand-receptor interaction × Name Other Names Cannabidiol CBD Epidiolex	Cannabidiol	[20]  6 ,  8 , 13, 19, 36, 46, 51, 95, 96, 97, 140, 144, 145, 156, 157, 158, 193, 206, 226, 271 💬 99. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 140 Dorabe syndrome;Dravet syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 156 Rett syndrome; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 193 Prader-Willi syndrome; 206 Fragile X syndrome; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica;
100	Neuroactive ligand-receptor interaction 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Neuroactive ligand-receptor interaction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Ganaxolone 💬 Neuroactive ligand-receptor interaction × Name Other Names Ganaxolone Ztalmy	Ganaxolone	[4] 145, 152, 158, 206 💬 100. Neuroactive ligand-receptor interaction × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 152 PCDH19-related syndrome;PCDH19-related epilepsy syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19 related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome;
101	Neuroactive ligand-receptor interaction 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Neuroactive ligand-receptor interaction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Nitrazepam 💬 Neuroactive ligand-receptor interaction × Name Other Names Nitrazepam Benzalin	Nitrazepam	[1] 145 💬 101. Neuroactive ligand-receptor interaction × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
102	Neuroactive ligand-receptor interaction 💬	[1] GRIN2B 💬 Neuroactive ligand-receptor interaction × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Neuroactive ligand-receptor interaction × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 102. Neuroactive ligand-receptor interaction × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
103	Neuroactive ligand-receptor interaction 💬	[1] HRH2 💬 Neuroactive ligand-receptor interaction × Name Full Name HRH2 histamine H2 receptor isoform 1	Famotidine 💬 Neuroactive ligand-receptor interaction × Name Other Names Famotidine Fluxid Pepcid	Famotidine	[7]  6 , 46, 86, 98, 107, 145, 300 💬 103. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 86 Pulmonary arterial hypertension;PAH; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal 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; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
104	Neuroactive ligand-receptor interaction 💬	[3] HTR1D, HTR2A, HTR2C 💬 Neuroactive ligand-receptor interaction × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor	Fenfluramine hydrochloride 💬 Neuroactive ligand-receptor interaction × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 104. Neuroactive ligand-receptor interaction × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
105	Neuroactive ligand-receptor interaction 💬	[3] HTR1D, HTR2A, HTR2C 💬 Neuroactive ligand-receptor interaction × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor	Fenfluramine 💬 Neuroactive ligand-receptor interaction × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 104. Neuroactive ligand-receptor interaction × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
106	Neuroactive ligand-receptor interaction 💬	[1] MC2R 💬 Neuroactive ligand-receptor interaction × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin 💬 Neuroactive ligand-receptor interaction × Name Other Names Corticotropin ACTH Acthar PURIFIED CORTROPHIN GEL	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 106. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
107	Neuroactive ligand-receptor interaction 💬	[1] MC2R 💬 Neuroactive ligand-receptor interaction × Name Full Name MC2R adrenocorticotropic hormone receptor	Corticotropin, repository 💬 Neuroactive ligand-receptor interaction × Name Other Names Corticotropin, repository Cortigel	Corticotropin	[10]  2 , 13, 46, 75, 78, 81, 84, 145, 205, 222 💬 106. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 13 Multiple sclerosis/Neuromyelitis optica;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; 75 Cushing disease;Cushing syndrome; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
108	Neuroactive ligand-receptor interaction 💬	[1] MC2R 💬 Neuroactive ligand-receptor interaction × Name Full Name MC2R adrenocorticotropic hormone receptor	Cosyntropin 💬 Neuroactive ligand-receptor interaction × Name Other Names Cosyntropin Tetracosactide Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 108. Neuroactive ligand-receptor interaction × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
109	Neuroactive ligand-receptor interaction 💬	[1] MC2R 💬 Neuroactive ligand-receptor interaction × Name Full Name MC2R adrenocorticotropic hormone receptor	Tetracosactide acetate 💬 Neuroactive ligand-receptor interaction × Name Other Names Tetracosactide acetate Cortrosyn	Tetracosactide	[4] 83, 113, 145, 222 💬 108. Neuroactive ligand-receptor interaction × Disease ID Name 83 Addison disease;Primary chronic adrenocortical insufficiency; 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;WWS;Muscle-Eye-Brain disease;MEB 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; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
110	Neuroactive ligand-receptor interaction 💬	[2] MTNR1A, MTNR1B 💬 Neuroactive ligand-receptor interaction × Name Full Name MTNR1A melatonin receptor type 1A MTNR1B melatonin receptor type 1B	Melatonin 💬 Neuroactive ligand-receptor interaction × Name Other Names Melatonin Melatonina Melatobel	Melatonin	[18]  2 ,  6 ,  8 , 13, 37, 46, 49, 72, 78, 86, 90, 96, 97, 145, 149, 159, 202, 265 💬 110. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Disorders of antidiuretic hormone (ADH) secretion;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 78 Hypopituitarism;Anterior pituitary hypothyroidism;PRL deficiency; 86 Pulmonary arterial hypertension;PAH; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 159 Xeroderma pigmentosum;XP; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
111	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Methylprednisolone 💬 Neuroactive ligand-receptor interaction × Name Other Names Methylprednisolone Medrol	Methylprednisolone	[51]  2 ,  6 , 11, 13, 14, 18, 19, 25, 26, 35, 38, 39, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 60, 62, 63, 64, 65, 66, 83, 84, 85, 86, 93, 95, 96, 97, 111, 127, 145, 162, 164, 211, 222, 223, 224, 271, 283, 284, 285, 296, 300 💬 111. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;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;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 35 Pemphigus; 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; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 83 Addison disease;Primary chronic adrenocortical insufficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 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; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 211 Hypoplastic left heart syndrome;HLHS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
112	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Methylprednisolone acetate 💬 Neuroactive ligand-receptor interaction × Name Other Names Methylprednisolone acetate Depo-medrol	Methylprednisolone	[51]  2 ,  6 , 11, 13, 14, 18, 19, 25, 26, 35, 38, 39, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 60, 62, 63, 64, 65, 66, 83, 84, 85, 86, 93, 95, 96, 97, 111, 127, 145, 162, 164, 211, 222, 223, 224, 271, 283, 284, 285, 296, 300 💬 111. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;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;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 35 Pemphigus; 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; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 83 Addison disease;Primary chronic adrenocortical insufficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 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; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 211 Hypoplastic left heart syndrome;HLHS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
113	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Prednisolone 💬 Neuroactive ligand-receptor interaction × Name Other Names Prednisolone Delta-cortef	Prednisolone	[48]  3 , 11, 13, 14, 18, 25, 26, 35, 38, 39, 40, 41, 43, 44, 45, 46, 49, 50, 51, 54, 56, 57, 60, 61, 63, 64, 65, 66, 75, 81, 84, 85, 95, 96, 97, 107, 111, 113, 145, 162, 222, 223, 251, 269, 271, 296, 299, 300 💬 113. Neuroactive ligand-receptor interaction × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;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; 35 Pemphigus; 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;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 75 Cushing disease;Cushing syndrome; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 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;WWS;Muscle-Eye-Brain disease;MEB 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;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 251 Urea cycle disorder;Primary hyperammonemia;Carbamoyl phosphate synthetase I deficiency;CPSI deficiency;Ornithine transcarbamylase deficiency;OTC deficiency;Classic citrullinemia;Citrullinemia type I;Argininosuccinic aciduria;Argininemia;N-acetylglutamate synthase deficiency;NAGS deficiency; 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;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
114	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Prednisone 💬 Neuroactive ligand-receptor interaction × Name Other Names Prednisone Prednisone monohydrate Deltasone Meticorten Rayos	Prednisone	[58]  2 , 11, 13, 14, 18, 19, 26, 28, 35, 40, 41, 42, 43, 44, 45, 46, 48, 49, 50, 51, 53, 60, 61, 63, 64, 65, 66, 79, 81, 84, 85, 86, 90, 93, 95, 96, 97, 113, 127, 145, 162, 164, 205, 222, 223, 224, 228, 251, 269, 283, 284, 285, 288, 299, 300, 303, 307, 331 💬 114. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;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;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 35 Pemphigus; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 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;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase 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;WWS;Muscle-Eye-Brain disease;MEB 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; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 251 Urea cycle disorder;Primary hyperammonemia;Carbamoyl phosphate synthetase I deficiency;CPSI deficiency;Ornithine transcarbamylase deficiency;OTC deficiency;Classic citrullinemia;Citrullinemia type I;Argininosuccinic aciduria;Argininemia;N-acetylglutamate synthase deficiency;NAGS deficiency; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 288 Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency; 299 Cystic fibrosis;CF; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 303 Usher syndrome; 307 Canavan disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
115	Nicotine addiction 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Nicotine addiction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Ganaxolone 💬 Nicotine addiction × Name Other Names Ganaxolone Ztalmy	Ganaxolone	[4] 145, 152, 158, 206 💬 115. Nicotine addiction × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 152 PCDH19-related syndrome;PCDH19-related epilepsy syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19 related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome;
116	Nicotine addiction 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Nicotine addiction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Nitrazepam 💬 Nicotine addiction × Name Other Names Nitrazepam Benzalin	Nitrazepam	[1] 145 💬 116. Nicotine addiction × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
117	Nicotine addiction 💬	[1] GRIN2B 💬 Nicotine addiction × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Nicotine addiction × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 117. Nicotine addiction × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
118	Pathways of neurodegeneration - multiple diseases 💬	[1] GRIN2B 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 118. Pathways of neurodegeneration - multiple diseases × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
119	Pathways of neurodegeneration - multiple diseases 💬	[1] SIGMAR1 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name SIGMAR1 sigma non-opioid intracellular receptor 1 isoform 1	Fenfluramine hydrochloride 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 119. Pathways of neurodegeneration - multiple diseases × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
120	Pathways of neurodegeneration - multiple diseases 💬	[1] SIGMAR1 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name SIGMAR1 sigma non-opioid intracellular receptor 1 isoform 1	Fenfluramine 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 119. Pathways of neurodegeneration - multiple diseases × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
121	Prion disease 💬	[1] GRIN2B 💬 Prion disease × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Prion disease × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 121. Prion disease × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
122	Propanoate metabolism 💬	[1] ABAT 💬 Propanoate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Divalproex sodium 💬 Propanoate metabolism × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 122. Propanoate metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
123	Propanoate metabolism 💬	[1] ABAT 💬 Propanoate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Valproic acid 💬 Propanoate metabolism × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 122. Propanoate metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
124	Propanoate metabolism 💬	[1] ABAT 💬 Propanoate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Valproate sodium 💬 Propanoate metabolism × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 122. Propanoate metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
125	Propanoate metabolism 💬	[1] ABAT 💬 Propanoate metabolism × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Vigabatrin 💬 Propanoate metabolism × Name Other Names Vigabatrin Sabril VIGAFYDE VIGABATRIN FOR ORAL SOLUTION VIGADRONE	Vigabatrin	[2] 145, 158 💬 125. Propanoate metabolism × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
126	Rap1 signaling pathway 💬	[1] CNR1 💬 Rap1 signaling pathway × Name Full Name CNR1 cannabinoid receptor 1 isoform a	Cannabidiol 💬 Rap1 signaling pathway × Name Other Names Cannabidiol CBD Epidiolex	Cannabidiol	[20]  6 ,  8 , 13, 19, 36, 46, 51, 95, 96, 97, 140, 144, 145, 156, 157, 158, 193, 206, 226, 271 💬 126. Rap1 signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 140 Dorabe syndrome;Dravet syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 156 Rett syndrome; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 193 Prader-Willi syndrome; 206 Fragile X syndrome; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica;
127	Rap1 signaling pathway 💬	[1] GRIN2B 💬 Rap1 signaling pathway × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Rap1 signaling pathway × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 127. Rap1 signaling pathway × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
128	Ras signaling pathway 💬	[1] GRIN2B 💬 Ras signaling pathway × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Ras signaling pathway × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 128. Ras signaling pathway × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
129	Retrograde endocannabinoid signaling 💬	[1] CNR1 💬 Retrograde endocannabinoid signaling × Name Full Name CNR1 cannabinoid receptor 1 isoform a	Cannabidiol 💬 Retrograde endocannabinoid signaling × Name Other Names Cannabidiol CBD Epidiolex	Cannabidiol	[20]  6 ,  8 , 13, 19, 36, 46, 51, 95, 96, 97, 140, 144, 145, 156, 157, 158, 193, 206, 226, 271 💬 129. Retrograde endocannabinoid signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 140 Dorabe syndrome;Dravet syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 156 Rett syndrome; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 193 Prader-Willi syndrome; 206 Fragile X syndrome; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica;
130	Retrograde endocannabinoid signaling 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Retrograde endocannabinoid signaling × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Ganaxolone 💬 Retrograde endocannabinoid signaling × Name Other Names Ganaxolone Ztalmy	Ganaxolone	[4] 145, 152, 158, 206 💬 130. Retrograde endocannabinoid signaling × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 152 PCDH19-related syndrome;PCDH19-related epilepsy syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19 related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome;
131	Retrograde endocannabinoid signaling 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Retrograde endocannabinoid signaling × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Nitrazepam 💬 Retrograde endocannabinoid signaling × Name Other Names Nitrazepam Benzalin	Nitrazepam	[1] 145 💬 131. Retrograde endocannabinoid signaling × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
132	Serotonergic synapse 💬	[3] GABRB1, GABRB2, GABRB3 💬 Serotonergic synapse × Name Full Name GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor	Ganaxolone 💬 Serotonergic synapse × Name Other Names Ganaxolone Ztalmy	Ganaxolone	[4] 145, 152, 158, 206 💬 132. Serotonergic synapse × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 152 PCDH19-related syndrome;PCDH19-related epilepsy syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19 related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome;
133	Serotonergic synapse 💬	[3] GABRB1, GABRB2, GABRB3 💬 Serotonergic synapse × Name Full Name GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor	Nitrazepam 💬 Serotonergic synapse × Name Other Names Nitrazepam Benzalin	Nitrazepam	[1] 145 💬 133. Serotonergic synapse × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
134	Serotonergic synapse 💬	[4] HTR1D, HTR2A, HTR2C, SLC6A4 💬 Serotonergic synapse × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor SLC6A4 sodium-dependent serotonin transporter	Fenfluramine hydrochloride 💬 Serotonergic synapse × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 134. Serotonergic synapse × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
135	Serotonergic synapse 💬	[4] HTR1D, HTR2A, HTR2C, SLC6A4 💬 Serotonergic synapse × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D HTR2A 5-hydroxytryptamine receptor 2A isoform 1 HTR2C 5-hydroxytryptamine receptor 2C isoform a precursor SLC6A4 sodium-dependent serotonin transporter	Fenfluramine 💬 Serotonergic synapse × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 134. Serotonergic synapse × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
136	Spinocerebellar ataxia 💬	[1] GRIN2B 💬 Spinocerebellar ataxia × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Spinocerebellar ataxia × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 136. Spinocerebellar ataxia × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
137	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Fenfluramine hydrochloride 💬 Synaptic vesicle cycle × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 137. Synaptic vesicle cycle × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
138	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Fenfluramine 💬 Synaptic vesicle cycle × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 137. Synaptic vesicle cycle × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
139	Systemic lupus erythematosus 💬	[1] GRIN2B 💬 Systemic lupus erythematosus × Name Full Name GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Radiprodil 💬 Systemic lupus erythematosus × Name Other Names Radiprodil Radiprodil	Radiprodil	[3] 137, 145, 158 💬 139. Systemic lupus erythematosus × Disease ID Name 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;
140	Taste transduction 💬	[6] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6 💬 Taste transduction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor	Ganaxolone 💬 Taste transduction × Name Other Names Ganaxolone Ztalmy	Ganaxolone	[4] 145, 152, 158, 206 💬 140. Taste transduction × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 152 PCDH19-related syndrome;PCDH19-related epilepsy syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19 related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 206 Fragile X syndrome;
141	Taste transduction 💬	[6] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6 💬 Taste transduction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor	Nitrazepam 💬 Taste transduction × Name Other Names Nitrazepam Benzalin	Nitrazepam	[1] 145 💬 141. Taste transduction × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
142	Taste transduction 💬	[1] HTR1D 💬 Taste transduction × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D	Fenfluramine hydrochloride 💬 Taste transduction × Name Other Names Fenfluramine hydrochloride Fintepla Pondimin	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 142. Taste transduction × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
143	Taste transduction 💬	[1] HTR1D 💬 Taste transduction × Name Full Name HTR1D 5-hydroxytryptamine receptor 1D	Fenfluramine 💬 Taste transduction × Name Other Names Fenfluramine Ponderax	Fenfluramine	[6] 140, 143, 144, 145, 149, 156 💬 142. Taste transduction × Disease ID Name 140 Dorabe syndrome;Dravet syndrome; 143 Epilepsy with myoclonic-atonic seizures;Epilepsy with myoclonic cataplexy;Myoclonic-astatic epilepsy;Doose syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 156 Rett syndrome;
144	Taste transduction 💬	[3] SCN2A, SCN3A, SCN9A 💬 Taste transduction × Name Full Name SCN2A sodium channel protein type 2 subunit alpha isoform 1 SCN3A sodium channel protein type 3 subunit alpha isoform 2 SCN9A sodium channel protein type 9 subunit alpha isoform 2	Carbamazepine 💬 Taste transduction × Name Other Names Carbamazepine Equetro Tegretol CARBATROL CARBAMAZEPINE ER	Carbamazepine	[6]  6 , 13, 137, 145, 158, 231 💬 144. Taste transduction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 137 Focal cortical dysplasia;FCD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 231 Alpha-1-antitrypsin deficiency;AATD;
145	Taurine and hypotaurine metabolism 💬	[2] GAD1, GAD2 💬 Taurine and hypotaurine metabolism × Name Full Name GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Divalproex sodium 💬 Taurine and hypotaurine metabolism × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 145. Taurine and hypotaurine metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
146	Taurine and hypotaurine metabolism 💬	[2] GAD1, GAD2 💬 Taurine and hypotaurine metabolism × Name Full Name GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproic acid 💬 Taurine and hypotaurine metabolism × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 145. Taurine and hypotaurine metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
147	Taurine and hypotaurine metabolism 💬	[2] GAD1, GAD2 💬 Taurine and hypotaurine metabolism × Name Full Name GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproate sodium 💬 Taurine and hypotaurine metabolism × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 145. Taurine and hypotaurine metabolism × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
148	Thermogenesis 💬	[1] CNR1 💬 Thermogenesis × Name Full Name CNR1 cannabinoid receptor 1 isoform a	Cannabidiol 💬 Thermogenesis × Name Other Names Cannabidiol CBD Epidiolex	Cannabidiol	[20]  6 ,  8 , 13, 19, 36, 46, 51, 95, 96, 97, 140, 144, 145, 156, 157, 158, 193, 206, 226, 271 💬 148. Thermogenesis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 140 Dorabe syndrome;Dravet syndrome; 144 Lennox-Gastaut syndrome; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 156 Rett syndrome; 157 Sturge-Weber syndrome;Síndrome de Sturge-Weber; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 193 Prader-Willi syndrome; 206 Fragile X syndrome; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica;
149	Type I diabetes mellitus 💬	[2] GAD1, GAD2 💬 Type I diabetes mellitus × Name Full Name GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Divalproex sodium 💬 Type I diabetes mellitus × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 149. Type I diabetes mellitus × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
150	Type I diabetes mellitus 💬	[2] GAD1, GAD2 💬 Type I diabetes mellitus × Name Full Name GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproic acid 💬 Type I diabetes mellitus × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 149. Type I diabetes mellitus × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
151	Type I diabetes mellitus 💬	[2] GAD1, GAD2 💬 Type I diabetes mellitus × Name Full Name GAD1 glutamate decarboxylase 1 isoform GAD67 GAD2 glutamate decarboxylase 2	Valproate sodium 💬 Type I diabetes mellitus × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 149. Type I diabetes mellitus × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
152	Type II diabetes mellitus 💬	[1] CACNA1G 💬 Type II diabetes mellitus × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1	Divalproex sodium 💬 Type II diabetes mellitus × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 152. Type II diabetes mellitus × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
153	Type II diabetes mellitus 💬	[1] CACNA1G 💬 Type II diabetes mellitus × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1	Valproic acid 💬 Type II diabetes mellitus × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 152. Type II diabetes mellitus × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
154	Type II diabetes mellitus 💬	[1] CACNA1G 💬 Type II diabetes mellitus × Name Full Name CACNA1G voltage-dependent T-type calcium channel subunit alpha-1G isoform 1	Valproate sodium 💬 Type II diabetes mellitus × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 152. Type II diabetes mellitus × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
155	Valine, leucine and isoleucine degradation 💬	[1] ABAT 💬 Valine, leucine and isoleucine degradation × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Divalproex sodium 💬 Valine, leucine and isoleucine degradation × Name Other Names Divalproex sodium Valproate semisodium Depakote DIVALPROEX SODIUM D/R DIVALPROEX SODIUM ER	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 155. Valine, leucine and isoleucine degradation × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
156	Valine, leucine and isoleucine degradation 💬	[1] ABAT 💬 Valine, leucine and isoleucine degradation × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Valproic acid 💬 Valine, leucine and isoleucine degradation × Name Other Names Valproic acid Depakene	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 155. Valine, leucine and isoleucine degradation × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
157	Valine, leucine and isoleucine degradation 💬	[1] ABAT 💬 Valine, leucine and isoleucine degradation × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Valproate sodium 💬 Valine, leucine and isoleucine degradation × Name Other Names Valproate sodium Sodium valproate Depakene Selenica	Valproic acid	[11]  3 ,  5 , 26, 34, 51, 65, 89, 90, 145, 222, 331 💬 155. Valine, leucine and isoleucine degradation × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 89 Lymphangioleiomyomatosis;LAM; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
158	Valine, leucine and isoleucine degradation 💬	[1] ABAT 💬 Valine, leucine and isoleucine degradation × Name Full Name ABAT 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor	Vigabatrin 💬 Valine, leucine and isoleucine degradation × Name Other Names Vigabatrin Sabril VIGAFYDE VIGABATRIN FOR ORAL SOLUTION VIGADRONE	Vigabatrin	[2] 145, 158 💬 158. Valine, leucine and isoleucine degradation × Disease ID Name 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC;

Back to top