Target Gene/Pathway Pathway / Gene

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No.	KEGG PATHWAY On map, Yellow: Drug target, Red: All disease-related	KEGG GENES	KEGG DRUG	DrugBank	Disease ID
1	Amyotrophic lateral sclerosis 💬	[1] SIGMAR1 💬 Amyotrophic lateral sclerosis × Name Full Name SIGMAR1 sigma non-opioid intracellular receptor 1	Fenfluramine hydrochloride 💬 Amyotrophic lateral sclerosis × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 1. Amyotrophic lateral sclerosis × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
2	Amyotrophic lateral sclerosis 💬	[1] SIGMAR1 💬 Amyotrophic lateral sclerosis × Name Full Name SIGMAR1 sigma non-opioid intracellular receptor 1	Fenfluramine 💬 Amyotrophic lateral sclerosis × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 1. Amyotrophic lateral sclerosis × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
3	Calcium signaling pathway 💬	[2] HTR2, HTR2 💬 Calcium signaling pathway × Name Full Name HTR2 HTR2	Fenfluramine 💬 Calcium signaling pathway × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 3. Calcium signaling pathway × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
4	Calcium signaling pathway 💬	[2] HTR2, HTR2 💬 Calcium signaling pathway × Name Full Name HTR2 HTR2	Fenfluramine hydrochloride 💬 Calcium signaling pathway × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 4. Calcium signaling pathway × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
5	cAMP signaling pathway 💬	[2] GABBR, GABBR 💬 cAMP signaling pathway × Name Full Name GABBR GABBR	Baclofen 💬 cAMP signaling pathway × Name Other Names Baclofen Baclofen (JP18/USP/INN) Kemstro (TN) Lioresal (TN) FLEQSUVY GABLOFEN LIORESAL LYVISPAH OZOBAX BACLOFEN	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 5. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
6	cAMP signaling pathway 💬	[1] HTR1 💬 cAMP signaling pathway × Name Full Name HTR1	Fenfluramine hydrochloride 💬 cAMP signaling pathway × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 6. cAMP signaling pathway × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
7	cAMP signaling pathway 💬	[1] HTR1 💬 cAMP signaling pathway × Name Full Name HTR1	Fenfluramine 💬 cAMP signaling pathway × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 6. cAMP signaling pathway × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
8	Circadian entrainment 💬	[2] MTNR1A, MTNR1B 💬 Circadian entrainment × Name Full Name MTNR1A melatonin receptor 1A MTNR1B melatonin receptor 1B	Melatonin 💬 Circadian entrainment × Name Other Names Melatonin Melatonin (JAN) Melatonina (TN) Melatobel (TN)	Melatonin	[17]  2 ,  6 ,  8 , 13, 37, 46, 49, 72, 78, 86, 90, 96, 97, 145, 149, 202, 265 💬 8. Circadian entrainment × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 86 Pulmonary arterial hypertension;PAH; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
9	Coronavirus disease - COVID-19 💬	[1] IL6R 💬 Coronavirus disease - COVID-19 × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 Coronavirus disease - COVID-19 × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 9. Coronavirus disease - COVID-19 × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
10	Cytokine-cytokine receptor interaction 💬	[1] IL6R 💬 Cytokine-cytokine receptor interaction × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 Cytokine-cytokine receptor interaction × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 10. Cytokine-cytokine receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
11	ECM-receptor interaction 💬	[1] SV2 💬 ECM-receptor interaction × Name Full Name SV2	Brivaracetam 💬 ECM-receptor interaction × Name Other Names Brivaracetam Brivaracetam (JAN/USAN/INN) Briviact (TN) BRIVIACT	Brivaracetam	[2] 149, 309 💬 11. ECM-receptor interaction × Disease ID Name 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 309 Progressive myoclonus epilepsy;Unverricht-Lundborg disease;Lafora disease;Benign adult familial myoclonus epilepsy;BAFME;
12	ECM-receptor interaction 💬	[1] SV2 💬 ECM-receptor interaction × Name Full Name SV2	Levetiracetam 💬 ECM-receptor interaction × Name Other Names Levetiracetam Levetiracetam (JAN/USP/INN) Keppra (TN) E keppra (TN) KEPPRA LEVETIRACETAM SPRITAM LEVETIRACETAM ER LEVETIRACETAM IN SODIUM CHLORIDE LEVETIRACETAM SOLUTION	Levetiracetam	[7]  2 ,  4 ,  6 , 13, 34, 149, 307 💬 12. ECM-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  6  Parkinson disease;Disease Parkinson's; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 34 Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 307 Canavan disease;
13	ECM-receptor interaction 💬	[3] SV2, SV2, SV2 💬 ECM-receptor interaction × Name Full Name SV2 SV2 SV2	Padsevonil 💬 ECM-receptor interaction × Name Other Names Padsevonil Padsevonil (JAN/USAN)	Padsevonil	[1] 149 💬 13. ECM-receptor interaction × Disease ID Name 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
14	Estrogen signaling pathway 💬	[2] GABBR, GABBR 💬 Estrogen signaling pathway × Name Full Name GABBR GABBR	Baclofen 💬 Estrogen signaling pathway × Name Other Names Baclofen Baclofen (JP18/USP/INN) Kemstro (TN) Lioresal (TN) FLEQSUVY GABLOFEN LIORESAL LYVISPAH OZOBAX BACLOFEN	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 14. Estrogen signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
15	Fat digestion and absorption 💬	[1] NPC1L1 💬 Fat digestion and absorption × Name Full Name NPC1L1 NPC1 like intracellular cholesterol transporter 1	Ezetimibe 💬 Fat digestion and absorption × Name Other Names Ezetimibe Ezetimibe (JAN/USP/INN) Zetia (TN) ZETIA EZETIMIBE	Ezetimibe	[5] 49, 79, 93, 149, 260 💬 15. Fat digestion and absorption × Disease ID Name 49 Systemic lupus erythematosus;SLE; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolaemia; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 260 Sitosterolemia;
16	GABAergic synapse 💬	[2] GABBR, GABBR 💬 GABAergic synapse × Name Full Name GABBR GABBR	Baclofen 💬 GABAergic synapse × Name Other Names Baclofen Baclofen (JP18/USP/INN) Kemstro (TN) Lioresal (TN) FLEQSUVY GABLOFEN LIORESAL LYVISPAH OZOBAX BACLOFEN	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 16. GABAergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
17	Gap junction 💬	[2] HTR2, HTR2 💬 Gap junction × Name Full Name HTR2 HTR2	Fenfluramine 💬 Gap junction × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 17. Gap junction × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
18	Gap junction 💬	[2] HTR2, HTR2 💬 Gap junction × Name Full Name HTR2 HTR2	Fenfluramine hydrochloride 💬 Gap junction × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 18. Gap junction × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
19	GnRH secretion 💬	[2] GABBR, GABBR 💬 GnRH secretion × Name Full Name GABBR GABBR	Baclofen 💬 GnRH secretion × Name Other Names Baclofen Baclofen (JP18/USP/INN) Kemstro (TN) Lioresal (TN) FLEQSUVY GABLOFEN LIORESAL LYVISPAH OZOBAX BACLOFEN	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 19. GnRH secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
20	Hematopoietic cell lineage 💬	[1] IL6R 💬 Hematopoietic cell lineage × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 Hematopoietic cell lineage × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 20. Hematopoietic cell lineage × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
21	HIF-1 signaling pathway 💬	[1] IL6R 💬 HIF-1 signaling pathway × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 HIF-1 signaling pathway × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 21. HIF-1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
22	Human cytomegalovirus infection 💬	[1] IL6R 💬 Human cytomegalovirus infection × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 Human cytomegalovirus infection × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 22. Human cytomegalovirus infection × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
23	Inflammatory mediator regulation of TRP channels 💬	[2] HTR2, HTR2 💬 Inflammatory mediator regulation of TRP channels × Name Full Name HTR2 HTR2	Fenfluramine hydrochloride 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 23. Inflammatory mediator regulation of TRP channels × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
24	Inflammatory mediator regulation of TRP channels 💬	[2] HTR2, HTR2 💬 Inflammatory mediator regulation of TRP channels × Name Full Name HTR2 HTR2	Fenfluramine 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 23. Inflammatory mediator regulation of TRP channels × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
25	Insulin secretion 💬	[1] SNAP25 💬 Insulin secretion × Name Full Name SNAP25 synaptosome associated protein 25	Botulinum toxin type A 💬 Insulin secretion × Name Other Names Botulinum toxin type A Botulinum toxin type A (JAN) Botox (TN) Dysport (TN) DAXXIFY DYSPORT	Botulinum toxin type A	[14]  2 ,  5 ,  6 ,  7 , 13, 15, 17, 47, 51, 70, 113, 149, 171, 226 💬 25. Insulin secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  5  Progressive supranuclear palsy;PSP;  6  Parkinson disease;Disease Parkinson's;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 47 Buerger disease;Thromboangiitis obliterans; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 70 Spinal stenosis;Extensive spinal canal stenosis; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 171 Wilson disease;WD; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
26	Insulin secretion 💬	[1] SNAP25 💬 Insulin secretion × Name Full Name SNAP25 synaptosome associated protein 25	Prabotulinumtoxin A 💬 Insulin secretion × Name Other Names Prabotulinumtoxin A Prabotulinumtoxin A (USAN) PrabotulinumtoxinA-xvfs Jeuveau (TN) JEUVEAU	Botulinum toxin type A	[14]  2 ,  5 ,  6 ,  7 , 13, 15, 17, 47, 51, 70, 113, 149, 171, 226 💬 25. Insulin secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  5  Progressive supranuclear palsy;PSP;  6  Parkinson disease;Disease Parkinson's;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 47 Buerger disease;Thromboangiitis obliterans; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 70 Spinal stenosis;Extensive spinal canal stenosis; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 171 Wilson disease;WD; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
27	JAK-STAT signaling pathway 💬	[1] IL6R 💬 JAK-STAT signaling pathway × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 JAK-STAT signaling pathway × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 27. JAK-STAT signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
28	Morphine addiction 💬	[2] GABBR, GABBR 💬 Morphine addiction × Name Full Name GABBR GABBR	Baclofen 💬 Morphine addiction × Name Other Names Baclofen Baclofen (JP18/USP/INN) Kemstro (TN) Lioresal (TN) FLEQSUVY GABLOFEN LIORESAL LYVISPAH OZOBAX BACLOFEN	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 28. Morphine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
29	Neuroactive ligand signaling 💬	[2] GABBR, GABBR 💬 Neuroactive ligand signaling × Name Full Name GABBR GABBR	Baclofen 💬 Neuroactive ligand signaling × Name Other Names Baclofen Baclofen (JP18/USP/INN) Kemstro (TN) Lioresal (TN) FLEQSUVY GABLOFEN LIORESAL LYVISPAH OZOBAX BACLOFEN	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 29. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
30	Neuroactive ligand signaling 💬	[4] HTR1, HTR2, HTR2, SLC6A4 💬 Neuroactive ligand signaling × Name Full Name HTR1 HTR2 HTR2 SLC6A4 solute carrier family 6 member 4	Fenfluramine hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 30. Neuroactive ligand signaling × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
31	Neuroactive ligand signaling 💬	[4] HTR1, HTR2, HTR2, SLC6A4 💬 Neuroactive ligand signaling × Name Full Name HTR1 HTR2 HTR2 SLC6A4 solute carrier family 6 member 4	Fenfluramine 💬 Neuroactive ligand signaling × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 30. Neuroactive ligand signaling × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
32	Neuroactive ligand-receptor interaction 💬	[2] GABBR, GABBR 💬 Neuroactive ligand-receptor interaction × Name Full Name GABBR GABBR	Baclofen 💬 Neuroactive ligand-receptor interaction × Name Other Names Baclofen Baclofen (JP18/USP/INN) Kemstro (TN) Lioresal (TN) FLEQSUVY GABLOFEN LIORESAL LYVISPAH OZOBAX BACLOFEN	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 32. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
33	Neuroactive ligand-receptor interaction 💬	[3] HTR1, HTR2, HTR2 💬 Neuroactive ligand-receptor interaction × Name Full Name HTR1 HTR2 HTR2	Fenfluramine hydrochloride 💬 Neuroactive ligand-receptor interaction × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 33. Neuroactive ligand-receptor interaction × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
34	Neuroactive ligand-receptor interaction 💬	[3] HTR1, HTR2, HTR2 💬 Neuroactive ligand-receptor interaction × Name Full Name HTR1 HTR2 HTR2	Fenfluramine 💬 Neuroactive ligand-receptor interaction × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 33. Neuroactive ligand-receptor interaction × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
35	Neuroactive ligand-receptor interaction 💬	[2] MTNR1A, MTNR1B 💬 Neuroactive ligand-receptor interaction × Name Full Name MTNR1A melatonin receptor 1A MTNR1B melatonin receptor 1B	Melatonin 💬 Neuroactive ligand-receptor interaction × Name Other Names Melatonin Melatonin (JAN) Melatonina (TN) Melatobel (TN)	Melatonin	[17]  2 ,  6 ,  8 , 13, 37, 46, 49, 72, 78, 86, 90, 96, 97, 145, 149, 202, 265 💬 35. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;  8  Huntington disease;Huntington chorea; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 72 Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;Central diabetes insipidus;Syndrome of inappropriate secretion of ADH;SIADH; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 86 Pulmonary arterial hypertension;PAH; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 202 Smith-Magenis syndrome; 265 Lipodystrophy;
36	Non-alcoholic fatty liver disease 💬	[1] IL6R 💬 Non-alcoholic fatty liver disease × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 Non-alcoholic fatty liver disease × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 36. Non-alcoholic fatty liver disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
37	Pathways in cancer 💬	[1] IL6R 💬 Pathways in cancer × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 Pathways in cancer × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 37. Pathways in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
38	Pathways of neurodegeneration - multiple diseases 💬	[1] SIGMAR1 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name SIGMAR1 sigma non-opioid intracellular receptor 1	Fenfluramine hydrochloride 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 38. Pathways of neurodegeneration - multiple diseases × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
39	Pathways of neurodegeneration - multiple diseases 💬	[1] SIGMAR1 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name SIGMAR1 sigma non-opioid intracellular receptor 1	Fenfluramine 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 38. Pathways of neurodegeneration - multiple diseases × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
40	PI3K-Akt signaling pathway 💬	[1] IL6R 💬 PI3K-Akt signaling pathway × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 PI3K-Akt signaling pathway × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 40. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
41	Serotonergic synapse 💬	[4] HTR1, HTR2, HTR2, SLC6A4 💬 Serotonergic synapse × Name Full Name HTR1 HTR2 HTR2 SLC6A4 solute carrier family 6 member 4	Fenfluramine hydrochloride 💬 Serotonergic synapse × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 41. Serotonergic synapse × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
42	Serotonergic synapse 💬	[4] HTR1, HTR2, HTR2, SLC6A4 💬 Serotonergic synapse × Name Full Name HTR1 HTR2 HTR2 SLC6A4 solute carrier family 6 member 4	Fenfluramine 💬 Serotonergic synapse × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 41. Serotonergic synapse × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
43	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 solute carrier family 6 member 4	Fenfluramine hydrochloride 💬 Synaptic vesicle cycle × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 43. Synaptic vesicle cycle × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
44	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 solute carrier family 6 member 4	Fenfluramine 💬 Synaptic vesicle cycle × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 43. Synaptic vesicle cycle × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
45	Synaptic vesicle cycle 💬	[1] SNAP25 💬 Synaptic vesicle cycle × Name Full Name SNAP25 synaptosome associated protein 25	Botulinum toxin type A 💬 Synaptic vesicle cycle × Name Other Names Botulinum toxin type A Botulinum toxin type A (JAN) Botox (TN) Dysport (TN) DAXXIFY DYSPORT	Botulinum toxin type A	[14]  2 ,  5 ,  6 ,  7 , 13, 15, 17, 47, 51, 70, 113, 149, 171, 226 💬 45. Synaptic vesicle cycle × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  5  Progressive supranuclear palsy;PSP;  6  Parkinson disease;Disease Parkinson's;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 47 Buerger disease;Thromboangiitis obliterans; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 70 Spinal stenosis;Extensive spinal canal stenosis; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 171 Wilson disease;WD; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
46	Synaptic vesicle cycle 💬	[1] SNAP25 💬 Synaptic vesicle cycle × Name Full Name SNAP25 synaptosome associated protein 25	Prabotulinumtoxin A 💬 Synaptic vesicle cycle × Name Other Names Prabotulinumtoxin A Prabotulinumtoxin A (USAN) PrabotulinumtoxinA-xvfs Jeuveau (TN) JEUVEAU	Botulinum toxin type A	[14]  2 ,  5 ,  6 ,  7 , 13, 15, 17, 47, 51, 70, 113, 149, 171, 226 💬 45. Synaptic vesicle cycle × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  5  Progressive supranuclear palsy;PSP;  6  Parkinson disease;Disease Parkinson's;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 47 Buerger disease;Thromboangiitis obliterans; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 70 Spinal stenosis;Extensive spinal canal stenosis; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 171 Wilson disease;WD; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
47	Taste transduction 💬	[2] GABBR, GABBR 💬 Taste transduction × Name Full Name GABBR GABBR	Baclofen 💬 Taste transduction × Name Other Names Baclofen Baclofen (JP18/USP/INN) Kemstro (TN) Lioresal (TN) FLEQSUVY GABLOFEN LIORESAL LYVISPAH OZOBAX BACLOFEN	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 47. Taste transduction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;:Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysial atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Neu:Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
48	Taste transduction 💬	[1] HTR1 💬 Taste transduction × Name Full Name HTR1	Fenfluramine hydrochloride 💬 Taste transduction × Name Other Names Fenfluramine hydrochloride Fenfluramine hydrochloride (JAN/USAN) Fintepla (TN) Pondimin (TN) FINTEPLA	Fenfluramine	[4] 140, 144, 145, 149 💬 48. Taste transduction × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
49	Taste transduction 💬	[1] HTR1 💬 Taste transduction × Name Full Name HTR1	Fenfluramine 💬 Taste transduction × Name Other Names Fenfluramine Fenfluramine (INN) Ponderax (TN)	Fenfluramine	[4] 140, 144, 145, 149 💬 48. Taste transduction × Disease ID Name 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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
50	Taste transduction 💬	[2] SCN3A, SCN9A 💬 Taste transduction × Name Full Name SCN3A sodium voltage-gated channel alpha subunit 3 SCN9A sodium voltage-gated channel alpha subunit 9	Lacosamide 💬 Taste transduction × Name Other Names Lacosamide Lacosamide (JAN/USAN/INN) Erlosamide Vimpat (TN) MOTPOLY XR VIMPAT LACOSAMIDE LACOSAMIDE ORAL SOLUTION	Lacosamide	[4]  2 , 46, 149, 298 💬 50. Taste transduction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 298 Hereditary pancreatitis;Chronic pancreatitis;
51	Th17 cell differentiation 💬	[1] IL6R 💬 Th17 cell differentiation × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 Th17 cell differentiation × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 51. Th17 cell differentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
52	Viral protein interaction with cytokine and cytokine receptor 💬	[1] IL6R 💬 Viral protein interaction with cytokine and cytokine receptor × Name Full Name IL6R interleukin 6 receptor	Tocilizumab 💬 Viral protein interaction with cytokine and cytokine receptor × Name Other Names Tocilizumab Tocilizumab (USAN/INN) Tocilizumab (genetical recombination) (JAN) Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra (TN) Avtozma (TN) Tofidence (TN) Tyenne (TN) AVTOZMA TOCILIZUMAB TOCILIZUMAB-ANOH TOFIDENCE TYENNE	Tocilizumab	[24]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 86, 107, 149, 153, 266, 271, 298, 331 💬 52. Viral protein interaction with cytokine and cytokine receptor × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD; 86 Pulmonary arterial hypertension;PAH; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 153 Acute encephalitis with refractory, repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;

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