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	Amoebiasis 💬	[2] IL1R1, IL1R2 💬 Amoebiasis × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor IL1R2 interleukin-1 receptor type 2 isoform 1 precursor	Anakinra 💬 Amoebiasis × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 1. Amoebiasis × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
2	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 💬 2. 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;
3	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 💬 2. 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;
4	Calcium signaling pathway 💬	[1] HTR2A 💬 Calcium signaling pathway × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1	Psilocybin 💬 Calcium signaling pathway × Name Other Names Psilocybin Psilocybine	Psilocybin	[5]  2 ,  6 , 13, 149, 206 💬 4. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
5	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 💬 5. 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;
6	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 💬 5. 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;
7	cAMP signaling pathway 💬	[2] GABBR1, GABBR2 💬 cAMP signaling pathway × Name Full Name GABBR1 gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor GABBR2 gamma-aminobutyric acid type B receptor subunit 2 precursor	Baclofen 💬 cAMP signaling pathway × Name Other Names Baclofen Kemstro Lioresal FLEQSUVY GABLOFEN LYVISPAH OZOBAX	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 7. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis/Neuromyelitis optica;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;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; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
8	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 💬 8. 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;
9	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 💬 8. 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;
10	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 💬 10. 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;
11	Coronavirus disease 💬	[1] IL6R 💬 Coronavirus disease × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 Coronavirus disease × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 11. Coronavirus disease × 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
12	Cytokine-cytokine receptor interaction 💬	[2] IL1R1, IL1R2 💬 Cytokine-cytokine receptor interaction × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor IL1R2 interleukin-1 receptor type 2 isoform 1 precursor	Anakinra 💬 Cytokine-cytokine receptor interaction × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 12. Cytokine-cytokine 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
13	Cytokine-cytokine receptor interaction 💬	[1] IL6R 💬 Cytokine-cytokine receptor interaction × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 Cytokine-cytokine receptor interaction × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 13. Cytokine-cytokine 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
14	ECM-receptor interaction 💬	[1] SV2A 💬 ECM-receptor interaction × Name Full Name SV2A synaptic vesicle glycoprotein 2A isoform 1	Brivaracetam 💬 ECM-receptor interaction × Name Other Names Brivaracetam Briviact BRIVARACETAM ORAL SOLUTION	Brivaracetam	[2] 149, 309 💬 14. ECM-receptor interaction × Disease ID Name 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 309 Progressive myoclonus epilepsy;Progressive myoclonic epilepsy;Unverricht-Lundborg disease;Lafora disease;Benign adult familial myoclonus epilepsy;BAFME;
15	ECM-receptor interaction 💬	[1] SV2A 💬 ECM-receptor interaction × Name Full Name SV2A synaptic vesicle glycoprotein 2A isoform 1	Levetiracetam 💬 ECM-receptor interaction × Name Other Names Levetiracetam Keppra E keppra SPRITAM LEVETIRACETAM ER LEVETIRACETAM IN SODIUM CHLORIDE LEVETIRACETAM SOLUTION	Levetiracetam	[7]  2 ,  4 ,  6 , 13, 34, 149, 307 💬 15. ECM-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  4  Primary lateral sclerosis;PLS;  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; 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;
16	ECM-receptor interaction 💬	[3] SV2A, SV2B, SV2C 💬 ECM-receptor interaction × Name Full Name SV2A synaptic vesicle glycoprotein 2A isoform 1 SV2B synaptic vesicle glycoprotein 2B isoform 1 SV2C synaptic vesicle glycoprotein 2C isoform 1	Padsevonil 💬 ECM-receptor interaction × Name Other Names Padsevonil Padsevonil	Padsevonil	[1] 149 💬 16. ECM-receptor interaction × Disease ID Name 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
17	Estrogen signaling pathway 💬	[2] GABBR1, GABBR2 💬 Estrogen signaling pathway × Name Full Name GABBR1 gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor GABBR2 gamma-aminobutyric acid type B receptor subunit 2 precursor	Baclofen 💬 Estrogen signaling pathway × Name Other Names Baclofen Kemstro Lioresal FLEQSUVY GABLOFEN LYVISPAH OZOBAX	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 17. Estrogen signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis/Neuromyelitis optica;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;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; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
18	Fat digestion and absorption 💬	[1] NPC1L1 💬 Fat digestion and absorption × Name Full Name NPC1L1 NPC1-like intracellular cholesterol transporter 1 isoform 1 precursor	Ezetimibe 💬 Fat digestion and absorption × Name Other Names Ezetimibe Zetia	Ezetimibe	[5] 49, 79, 93, 149, 260 💬 18. Fat digestion and absorption × Disease ID Name 49 Systemic lupus erythematosus;SLE; 79 Homozygous familial hypercholesterolemia;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;
19	Fluid shear stress and atherosclerosis 💬	[2] IL1R1, IL1R2 💬 Fluid shear stress and atherosclerosis × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor IL1R2 interleukin-1 receptor type 2 isoform 1 precursor	Anakinra 💬 Fluid shear stress and atherosclerosis × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 19. Fluid shear stress and atherosclerosis × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
20	GABAergic synapse 💬	[2] GABBR1, GABBR2 💬 GABAergic synapse × Name Full Name GABBR1 gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor GABBR2 gamma-aminobutyric acid type B receptor subunit 2 precursor	Baclofen 💬 GABAergic synapse × Name Other Names Baclofen Kemstro Lioresal FLEQSUVY GABLOFEN LYVISPAH OZOBAX	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 20. GABAergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis/Neuromyelitis optica;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;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; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
21	Gap junction 💬	[1] HTR2A 💬 Gap junction × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1	Psilocybin 💬 Gap junction × Name Other Names Psilocybin Psilocybine	Psilocybin	[5]  2 ,  6 , 13, 149, 206 💬 21. Gap junction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
22	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 💬 22. 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;
23	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 💬 22. 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;
24	GnRH secretion 💬	[2] GABBR1, GABBR2 💬 GnRH secretion × Name Full Name GABBR1 gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor GABBR2 gamma-aminobutyric acid type B receptor subunit 2 precursor	Baclofen 💬 GnRH secretion × Name Other Names Baclofen Kemstro Lioresal FLEQSUVY GABLOFEN LYVISPAH OZOBAX	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 24. GnRH secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis/Neuromyelitis optica;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;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; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
25	Hematopoietic cell lineage 💬	[2] IL1R1, IL1R2 💬 Hematopoietic cell lineage × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor IL1R2 interleukin-1 receptor type 2 isoform 1 precursor	Anakinra 💬 Hematopoietic cell lineage × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 25. Hematopoietic cell lineage × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
26	Hematopoietic cell lineage 💬	[1] IL6R 💬 Hematopoietic cell lineage × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 Hematopoietic cell lineage × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 26. Hematopoietic cell lineage × 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
27	HIF-1 signaling pathway 💬	[1] IL6R 💬 HIF-1 signaling pathway × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 HIF-1 signaling pathway × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 27. HIF-1 signaling pathway × 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
28	Human cytomegalovirus infection 💬	[1] IL1R1 💬 Human cytomegalovirus infection × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor	Anakinra 💬 Human cytomegalovirus infection × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 28. Human cytomegalovirus infection × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
29	Human cytomegalovirus infection 💬	[1] IL6R 💬 Human cytomegalovirus infection × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 Human cytomegalovirus infection × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 29. Human cytomegalovirus infection × 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
30	Human T-cell leukemia virus 1 infection 💬	[2] IL1R1, IL1R2 💬 Human T-cell leukemia virus 1 infection × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor IL1R2 interleukin-1 receptor type 2 isoform 1 precursor	Anakinra 💬 Human T-cell leukemia virus 1 infection × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 30. Human T-cell leukemia virus 1 infection × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
31	Inflammatory mediator regulation of TRP channels 💬	[1] HTR2A 💬 Inflammatory mediator regulation of TRP channels × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1	Psilocybin 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Psilocybin Psilocybine	Psilocybin	[5]  2 ,  6 , 13, 149, 206 💬 31. Inflammatory mediator regulation of TRP channels × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
32	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 💬 32. 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;
33	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 💬 32. 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;
34	Inflammatory mediator regulation of TRP channels 💬	[1] IL1R1 💬 Inflammatory mediator regulation of TRP channels × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor	Anakinra 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 34. Inflammatory mediator regulation of TRP channels × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
35	Insulin secretion 💬	[1] SNAP25 💬 Insulin secretion × Name Full Name SNAP25 synaptosomal-associated protein 25 isoform SNAP25A	Botulinum toxin type A 💬 Insulin secretion × Name Other Names Botulinum toxin type A Botox Dysport DAXXIFY	Botulinum toxin type A	[13]  2 ,  5 ,  6 ,  7 , 13, 15, 17, 47, 70, 113, 149, 171, 226 💬 35. Insulin secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  5  Progressive supranuclear palsy;PSP;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 47 Buerger disease;Thromboangiitis obliterans; 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;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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 171 Wilson disease;WD; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
36	Insulin secretion 💬	[1] SNAP25 💬 Insulin secretion × Name Full Name SNAP25 synaptosomal-associated protein 25 isoform SNAP25A	Incobotulinumtoxin A 💬 Insulin secretion × Name Other Names Incobotulinumtoxin A Onaclostox Xeomin	Botulinum toxin type A	[13]  2 ,  5 ,  6 ,  7 , 13, 15, 17, 47, 70, 113, 149, 171, 226 💬 35. Insulin secretion × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  5  Progressive supranuclear palsy;PSP;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 47 Buerger disease;Thromboangiitis obliterans; 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;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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 171 Wilson disease;WD; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
37	JAK-STAT signaling pathway 💬	[1] IL6R 💬 JAK-STAT signaling pathway × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 JAK-STAT signaling pathway × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 37. JAK-STAT signaling pathway × 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
38	MAPK signaling pathway 💬	[1] IL1R1 💬 MAPK signaling pathway × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor	Anakinra 💬 MAPK signaling pathway × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 38. MAPK 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
39	Morphine addiction 💬	[2] GABBR1, GABBR2 💬 Morphine addiction × Name Full Name GABBR1 gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor GABBR2 gamma-aminobutyric acid type B receptor subunit 2 precursor	Baclofen 💬 Morphine addiction × Name Other Names Baclofen Kemstro Lioresal FLEQSUVY GABLOFEN LYVISPAH OZOBAX	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 39. Morphine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis/Neuromyelitis optica;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;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; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
40	Neuroactive ligand signaling 💬	[2] GABBR1, GABBR2 💬 Neuroactive ligand signaling × Name Full Name GABBR1 gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor GABBR2 gamma-aminobutyric acid type B receptor subunit 2 precursor	Baclofen 💬 Neuroactive ligand signaling × Name Other Names Baclofen Kemstro Lioresal FLEQSUVY GABLOFEN LYVISPAH OZOBAX	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 40. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis/Neuromyelitis optica;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;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; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
41	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 💬 41. 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;
42	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 💬 41. 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;
43	Neuroactive ligand signaling 💬	[1] HTR2A 💬 Neuroactive ligand signaling × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1	Psilocybin 💬 Neuroactive ligand signaling × Name Other Names Psilocybin Psilocybine	Psilocybin	[5]  2 ,  6 , 13, 149, 206 💬 43. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
44	Neuroactive ligand-receptor interaction 💬	[2] GABBR1, GABBR2 💬 Neuroactive ligand-receptor interaction × Name Full Name GABBR1 gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor GABBR2 gamma-aminobutyric acid type B receptor subunit 2 precursor	Baclofen 💬 Neuroactive ligand-receptor interaction × Name Other Names Baclofen Kemstro Lioresal FLEQSUVY GABLOFEN LYVISPAH OZOBAX	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 44. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis/Neuromyelitis optica;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;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; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
45	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 💬 45. 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;
46	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 💬 45. 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;
47	Neuroactive ligand-receptor interaction 💬	[1] HTR2A 💬 Neuroactive ligand-receptor interaction × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1	Psilocybin 💬 Neuroactive ligand-receptor interaction × Name Other Names Psilocybin Psilocybine	Psilocybin	[5]  2 ,  6 , 13, 149, 206 💬 47. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
48	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 💬 48. 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;
49	NF-kappa B signaling pathway 💬	[1] IL1R1 💬 NF-kappa B signaling pathway × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor	Anakinra 💬 NF-kappa B signaling pathway × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 49. NF-kappa B 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
50	Non-alcoholic fatty liver disease 💬	[1] IL6R 💬 Non-alcoholic fatty liver disease × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 Non-alcoholic fatty liver disease × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 50. Non-alcoholic fatty liver disease × 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
51	Osteoclast differentiation 💬	[1] IL1R1 💬 Osteoclast differentiation × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor	Anakinra 💬 Osteoclast differentiation × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 51. Osteoclast differentiation × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
52	Pathogenic Escherichia coli infection 💬	[1] IL1R1 💬 Pathogenic Escherichia coli infection × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor	Anakinra 💬 Pathogenic Escherichia coli infection × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 52. Pathogenic Escherichia coli infection × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
53	Pathways in cancer 💬	[1] IL6R 💬 Pathways in cancer × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 Pathways in cancer × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 53. Pathways in cancer × 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
54	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 💬 54. 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;
55	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 💬 54. 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;
56	PI3K-Akt signaling pathway 💬	[1] IL6R 💬 PI3K-Akt signaling pathway × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 PI3K-Akt signaling pathway × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 56. PI3K-Akt signaling pathway × 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
57	Prostate cancer 💬	[1] IL1R2 💬 Prostate cancer × Name Full Name IL1R2 interleukin-1 receptor type 2 isoform 1 precursor	Anakinra 💬 Prostate cancer × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 57. Prostate cancer × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
58	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 💬 58. 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;
59	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 💬 58. 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;
60	Serotonergic synapse 💬	[1] HTR2A 💬 Serotonergic synapse × Name Full Name HTR2A 5-hydroxytryptamine receptor 2A isoform 1	Psilocybin 💬 Serotonergic synapse × Name Other Names Psilocybin Psilocybine	Psilocybin	[5]  2 ,  6 , 13, 149, 206 💬 60. Serotonergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
61	Shigellosis 💬	[1] IL1R1 💬 Shigellosis × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor	Anakinra 💬 Shigellosis × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 61. Shigellosis × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
62	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 💬 62. 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;
63	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 💬 62. 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;
64	Synaptic vesicle cycle 💬	[1] SNAP25 💬 Synaptic vesicle cycle × Name Full Name SNAP25 synaptosomal-associated protein 25 isoform SNAP25A	Botulinum toxin type A 💬 Synaptic vesicle cycle × Name Other Names Botulinum toxin type A Botox Dysport DAXXIFY	Botulinum toxin type A	[13]  2 ,  5 ,  6 ,  7 , 13, 15, 17, 47, 70, 113, 149, 171, 226 💬 64. Synaptic vesicle cycle × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  5  Progressive supranuclear palsy;PSP;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 47 Buerger disease;Thromboangiitis obliterans; 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;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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 171 Wilson disease;WD; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
65	Synaptic vesicle cycle 💬	[1] SNAP25 💬 Synaptic vesicle cycle × Name Full Name SNAP25 synaptosomal-associated protein 25 isoform SNAP25A	Incobotulinumtoxin A 💬 Synaptic vesicle cycle × Name Other Names Incobotulinumtoxin A Onaclostox Xeomin	Botulinum toxin type A	[13]  2 ,  5 ,  6 ,  7 , 13, 15, 17, 47, 70, 113, 149, 171, 226 💬 64. Synaptic vesicle cycle × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  5  Progressive supranuclear palsy;PSP;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  7  Corticobasal degeneration;Corticobasal syndrome;CBD; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 15 Inclusion body myositis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 47 Buerger disease;Thromboangiitis obliterans; 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;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; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 171 Wilson disease;WD; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
66	Taste transduction 💬	[2] GABBR1, GABBR2 💬 Taste transduction × Name Full Name GABBR1 gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor GABBR2 gamma-aminobutyric acid type B receptor subunit 2 precursor	Baclofen 💬 Taste transduction × Name Other Names Baclofen Kemstro Lioresal FLEQSUVY GABLOFEN LYVISPAH OZOBAX	Baclofen	[8]  2 , 10, 13, 18, 65, 70, 149, 206 💬 66. Taste transduction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 10 Charcot-Marie-Tooth disease;CMT; 13 Multiple sclerosis/Neuromyelitis optica;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;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; 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; 70 Spinal stenosis;Extensive spinal canal stenosis; 149 Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome; 206 Fragile X syndrome;
67	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 💬 67. 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;
68	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 💬 67. 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;
69	Taste transduction 💬	[2] SCN3A, SCN9A 💬 Taste transduction × Name Full Name SCN3A sodium channel protein type 3 subunit alpha isoform 2 SCN9A sodium channel protein type 9 subunit alpha isoform 2	Lacosamide 💬 Taste transduction × Name Other Names Lacosamide Erlosamide Vimpat MOTPOLY XR LACOSAMIDE ORAL SOLUTION	Lacosamide	[4]  2 , 46, 149, 298 💬 69. 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;
70	Th17 cell differentiation 💬	[1] IL1R1 💬 Th17 cell differentiation × Name Full Name IL1R1 interleukin-1 receptor type 1 isoform 1 precursor	Anakinra 💬 Th17 cell differentiation × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 70. Th17 cell differentiation × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
71	Th17 cell differentiation 💬	[1] IL6R 💬 Th17 cell differentiation × Name Full Name IL6R interleukin-6 receptor subunit alpha isoform 1 precursor	Tocilizumab 💬 Th17 cell differentiation × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 71. Th17 cell differentiation × 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; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 266 Familial mediterranean fever; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 298 Hereditary pancreatitis;Chronic pancreatitis; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
72	Transcriptional misregulation in cancer 💬	[1] IL1R2 💬 Transcriptional misregulation in cancer × Name Full Name IL1R2 interleukin-1 receptor type 2 isoform 1 precursor	Anakinra 💬 Transcriptional misregulation in cancer × Name Other Names Anakinra Kineret	Anakinra	[22]  2 , 13, 15, 19, 28, 37, 41, 46, 49, 50, 54, 56, 57, 84, 86, 97, 106, 107, 149, 153, 266, 299 💬 72. Transcriptional misregulation in cancer × 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; 15 Inclusion body myositis; 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; 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; 37 Generalised pustular psoriasis;GPP;Pustular psoriasis;Herpetic impetigo; 41 Giant cell arteritis;Temporal arteritis; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 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; 84 Sarcoidosis; 86 Pulmonary arterial hypertension;PAH; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 106 Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;Familial cold autoinflammatory syndrome;FCAS;Muckle-Wells syndrome;MWS;Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;Neonatal onset multisystem inflammatory disease;NOMID; 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; 299 Cystic fibrosis;CF;
73	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 subunit alpha isoform 1 precursor	Tocilizumab 💬 Viral protein interaction with cytokine and cytokine receptor × Name Other Names Tocilizumab Tocilizumab-aazg Tocilizumab-bavi Tocilizumab-anoh Actemra Avtozma Tofidence Tyenne	Tocilizumab	[26]  2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬 73. 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;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;Glomerulonephritis; 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;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 54 Adult still disease;Adult-onset Still's disease; 55 Relapsing polychondritis; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 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; 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; 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; 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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