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	Adrenergic signaling in cardiomyocytes 💬	[4] CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4 💬 Adrenergic signaling in cardiomyocytes × Name Full Name CACNA2D1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein CACNA2D2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor CACNA2D3 voltage-dependent calcium channel subunit alpha-2/delta-3 precursor CACNA2D4 voltage-dependent calcium channel subunit alpha-2/delta-4	Gabapentin 💬 Adrenergic signaling in cardiomyocytes × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 1. Adrenergic signaling in cardiomyocytes × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
2	Alcoholism 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alcoholism × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Alcoholism × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 2. Alcoholism × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
3	Alcoholism 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alcoholism × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Alcoholism × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 3. Alcoholism × Disease ID Name 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;
4	Alcoholism 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alcoholism × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Alcoholism × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 3. Alcoholism × Disease ID Name 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;
5	Alcoholism 💬	[1] SLC6A3 💬 Alcoholism × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrochloride 💬 Alcoholism × Name Other Names Bupropion hydrochloride Wellbutrin Zyban BUPROPION HCL ER FORFIVO BUPROPION BUPROPION HCL BUPROPION HCL ER(SR) BUPROPION HYDROCHLORIDE SR	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 5. Alcoholism × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
6	Alcoholism 💬	[1] SLC6A3 💬 Alcoholism × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion 💬 Alcoholism × Name Other Names Bupropion Bupropion	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 5. Alcoholism × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
7	Alcoholism 💬	[1] SLC6A3 💬 Alcoholism × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrobromide 💬 Alcoholism × Name Other Names Bupropion hydrobromide Aplenzin	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 5. Alcoholism × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
8	Alzheimer disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alzheimer disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Alzheimer disease × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 8. Alzheimer disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
9	Alzheimer disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alzheimer disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Alzheimer disease × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 9. Alzheimer disease × Disease ID Name 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;
10	Alzheimer disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Alzheimer disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Alzheimer disease × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 9. Alzheimer disease × Disease ID Name 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;
11	Amphetamine addiction 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amphetamine addiction × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Amphetamine addiction × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 11. Amphetamine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
12	Amphetamine addiction 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amphetamine addiction × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Amphetamine addiction × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 12. Amphetamine addiction × Disease ID Name 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;
13	Amphetamine addiction 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amphetamine addiction × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Amphetamine addiction × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 12. Amphetamine addiction × Disease ID Name 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;
14	Amphetamine addiction 💬	[1] SLC6A3 💬 Amphetamine addiction × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrochloride 💬 Amphetamine addiction × Name Other Names Bupropion hydrochloride Wellbutrin Zyban BUPROPION HCL ER FORFIVO BUPROPION BUPROPION HCL BUPROPION HCL ER(SR) BUPROPION HYDROCHLORIDE SR	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 14. Amphetamine addiction × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
15	Amphetamine addiction 💬	[1] SLC6A3 💬 Amphetamine addiction × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion 💬 Amphetamine addiction × Name Other Names Bupropion Bupropion	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 14. Amphetamine addiction × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
16	Amphetamine addiction 💬	[1] SLC6A3 💬 Amphetamine addiction × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrobromide 💬 Amphetamine addiction × Name Other Names Bupropion hydrobromide Aplenzin	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 14. Amphetamine addiction × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
17	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin calcium 💬 AMPK signaling pathway × Name Other Names Rosuvastatin calcium ZD 4522 Crestor ROSUVASTAIN CALCIUM ROSUVASTATIN ROSUVSTATIN	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 17. AMPK signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 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; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
18	AMPK signaling pathway 💬	[1] HMGCR 💬 AMPK signaling pathway × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin 💬 AMPK signaling pathway × Name Other Names Rosuvastatin Creston	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 17. AMPK signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 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; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
19	Amyotrophic lateral sclerosis 💬	[7] GRIA1, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amyotrophic lateral sclerosis × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Amyotrophic lateral sclerosis × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 19. Amyotrophic lateral sclerosis × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
20	Amyotrophic lateral sclerosis 💬	[7] GRIA1, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amyotrophic lateral sclerosis × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Amyotrophic lateral sclerosis × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 20. Amyotrophic lateral sclerosis × Disease ID Name 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;
21	Amyotrophic lateral sclerosis 💬	[7] GRIA1, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Amyotrophic lateral sclerosis × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Amyotrophic lateral sclerosis × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 20. Amyotrophic lateral sclerosis × Disease ID Name 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;
22	Arrhythmogenic right ventricular cardiomyopathy 💬	[4] CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4 💬 Arrhythmogenic right ventricular cardiomyopathy × Name Full Name CACNA2D1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein CACNA2D2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor CACNA2D3 voltage-dependent calcium channel subunit alpha-2/delta-3 precursor CACNA2D4 voltage-dependent calcium channel subunit alpha-2/delta-4	Gabapentin 💬 Arrhythmogenic right ventricular cardiomyopathy × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 22. Arrhythmogenic right ventricular cardiomyopathy × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
23	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin calcium 💬 Bile secretion × Name Other Names Rosuvastatin calcium ZD 4522 Crestor ROSUVASTAIN CALCIUM ROSUVASTATIN ROSUVSTATIN	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 23. Bile secretion × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 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; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
24	Bile secretion 💬	[1] HMGCR 💬 Bile secretion × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin 💬 Bile secretion × Name Other Names Rosuvastatin Creston	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 23. Bile secretion × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 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; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
25	Cadherin signaling 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Cadherin signaling × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Flumazenil 💬 Cadherin signaling × Name Other Names Flumazenil Romazicon	Flumazenil	[5]  6 , 13, 17, 18, 206 💬 25. Cadherin signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 206 Fragile X syndrome;
26	Calcium signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Calcium signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Calcium signaling pathway × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 26. Calcium signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
27	Calcium signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Calcium signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Calcium signaling pathway × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 27. Calcium signaling pathway × Disease ID Name 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;
28	Calcium signaling pathway 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Calcium signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Calcium signaling pathway × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 27. Calcium signaling pathway × Disease ID Name 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;
29	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 💬 29. 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;
30	cAMP signaling pathway 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 cAMP signaling pathway × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 cAMP signaling pathway × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 30. cAMP signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
31	cAMP signaling pathway 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 cAMP signaling pathway × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 cAMP signaling pathway × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 31. cAMP signaling pathway × Disease ID Name 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;
32	cAMP signaling pathway 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 cAMP signaling pathway × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 cAMP signaling pathway × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 31. cAMP signaling pathway × Disease ID Name 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;
33	Cardiac muscle contraction 💬	[4] CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4 💬 Cardiac muscle contraction × Name Full Name CACNA2D1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein CACNA2D2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor CACNA2D3 voltage-dependent calcium channel subunit alpha-2/delta-3 precursor CACNA2D4 voltage-dependent calcium channel subunit alpha-2/delta-4	Gabapentin 💬 Cardiac muscle contraction × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 33. Cardiac muscle contraction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
34	Chagas disease 💬	[2] IFNGR1, IFNGR2 💬 Chagas disease × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Chagas disease × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 34. Chagas disease × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
35	Chemical carcinogenesis - reactive oxygen species 💬	[1] NFE2L2 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name NFE2L2 nuclear factor erythroid 2-related factor 2 isoform 1	Omaveloxolone 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Omaveloxolone Skyclarys	Omaveloxolone	[1] 18 💬 35. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 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;
36	Chemical carcinogenesis - receptor activation 💬	[2] CHRNA4, CHRNB2 💬 Chemical carcinogenesis - receptor activation × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline tartrate 💬 Chemical carcinogenesis - receptor activation × Name Other Names Varenicline tartrate Chantix Champix Tyrvaya VARENICLINE	Varenicline	[4]  6 , 18, 53, 298 💬 36. Chemical carcinogenesis - receptor activation × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
37	Chemical carcinogenesis - receptor activation 💬	[2] CHRNA4, CHRNB2 💬 Chemical carcinogenesis - receptor activation × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline 💬 Chemical carcinogenesis - receptor activation × Name Other Names Varenicline Varenicline	Varenicline	[4]  6 , 18, 53, 298 💬 36. Chemical carcinogenesis - receptor activation × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
38	Chemical carcinogenesis - receptor activation 💬	[1] VDR 💬 Chemical carcinogenesis - receptor activation × Name Full Name VDR vitamin D3 receptor isoform VDRA	Calcitriol 💬 Chemical carcinogenesis - receptor activation × Name Other Names Calcitriol Rocaltrol VECTICAL	Calcitriol	[11] 18, 37, 46, 49, 66, 96, 158, 223, 235, 238, 326 💬 38. Chemical carcinogenesis - receptor activation × Disease ID Name 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; 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; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 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; 235 Hypoparathyroidism;Accessory thyroid hypergasia disease; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
39	Cholinergic synapse 💬	[2] CHRNA4, CHRNB2 💬 Cholinergic synapse × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline tartrate 💬 Cholinergic synapse × Name Other Names Varenicline tartrate Chantix Champix Tyrvaya VARENICLINE	Varenicline	[4]  6 , 18, 53, 298 💬 39. Cholinergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
40	Cholinergic synapse 💬	[2] CHRNA4, CHRNB2 💬 Cholinergic synapse × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline 💬 Cholinergic synapse × Name Other Names Varenicline Varenicline	Varenicline	[4]  6 , 18, 53, 298 💬 39. Cholinergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
41	Circadian entrainment 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Circadian entrainment × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Circadian entrainment × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 41. Circadian entrainment × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
42	Circadian entrainment 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Circadian entrainment × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Circadian entrainment × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 42. Circadian entrainment × Disease ID Name 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;
43	Circadian entrainment 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Circadian entrainment × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Circadian entrainment × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 42. Circadian entrainment × Disease ID Name 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;
44	Cocaine addiction 💬	[6] GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Cocaine addiction × Name Full Name GRIA2 glutamate receptor 2 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Cocaine addiction × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 44. Cocaine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
45	Cocaine addiction 💬	[6] GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Cocaine addiction × Name Full Name GRIA2 glutamate receptor 2 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Cocaine addiction × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 45. Cocaine addiction × Disease ID Name 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;
46	Cocaine addiction 💬	[6] GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Cocaine addiction × Name Full Name GRIA2 glutamate receptor 2 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Cocaine addiction × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 45. Cocaine addiction × Disease ID Name 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;
47	Cocaine addiction 💬	[1] SLC6A3 💬 Cocaine addiction × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrochloride 💬 Cocaine addiction × Name Other Names Bupropion hydrochloride Wellbutrin Zyban BUPROPION HCL ER FORFIVO BUPROPION BUPROPION HCL BUPROPION HCL ER(SR) BUPROPION HYDROCHLORIDE SR	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 47. Cocaine addiction × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
48	Cocaine addiction 💬	[1] SLC6A3 💬 Cocaine addiction × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion 💬 Cocaine addiction × Name Other Names Bupropion Bupropion	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 47. Cocaine addiction × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
49	Cocaine addiction 💬	[1] SLC6A3 💬 Cocaine addiction × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrobromide 💬 Cocaine addiction × Name Other Names Bupropion hydrobromide Aplenzin	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 47. Cocaine addiction × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
50	Cytokine-cytokine receptor interaction 💬	[1] CSF3R 💬 Cytokine-cytokine receptor interaction × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Lenograstim 💬 Cytokine-cytokine receptor interaction × Name Other Names Lenograstim Neutrogin	Lenograstim	[8]  2 , 13, 16, 18, 19, 57, 65, 97 💬 50. 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; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 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; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
51	Cytokine-cytokine receptor interaction 💬	[1] EPOR 💬 Cytokine-cytokine receptor interaction × Name Full Name EPOR erythropoietin receptor precursor	Epoetin alfa 💬 Cytokine-cytokine receptor interaction × Name Other Names Epoetin alfa Epoetin kappa Epoetin alfa-epbx Epogen Epoetin alfa BS PROCRIT RETACRIT	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 51. Cytokine-cytokine 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
52	Cytokine-cytokine receptor interaction 💬	[1] EPOR 💬 Cytokine-cytokine receptor interaction × Name Full Name EPOR erythropoietin receptor precursor	Epoetin epsilon 💬 Cytokine-cytokine receptor interaction × Name Other Names Epoetin epsilon Epoetin epsilon	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 51. Cytokine-cytokine 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
53	Cytokine-cytokine receptor interaction 💬	[1] EPOR 💬 Cytokine-cytokine receptor interaction × Name Full Name EPOR erythropoietin receptor precursor	Epoetin theta 💬 Cytokine-cytokine receptor interaction × Name Other Names Epoetin theta Biopoin Eporatio	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 51. Cytokine-cytokine 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
54	Cytokine-cytokine receptor interaction 💬	[1] EPOR 💬 Cytokine-cytokine receptor interaction × Name Full Name EPOR erythropoietin receptor precursor	Epoetin zeta 💬 Cytokine-cytokine receptor interaction × Name Other Names Epoetin zeta Retacrit Silapo	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 51. Cytokine-cytokine 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
55	Cytokine-cytokine receptor interaction 💬	[2] IFNGR1, IFNGR2 💬 Cytokine-cytokine receptor interaction × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Cytokine-cytokine receptor interaction × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 55. Cytokine-cytokine receptor interaction × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
56	Dilated cardiomyopathy 💬	[4] CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4 💬 Dilated cardiomyopathy × Name Full Name CACNA2D1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein CACNA2D2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor CACNA2D3 voltage-dependent calcium channel subunit alpha-2/delta-3 precursor CACNA2D4 voltage-dependent calcium channel subunit alpha-2/delta-4	Gabapentin 💬 Dilated cardiomyopathy × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 56. Dilated cardiomyopathy × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
57	Dopaminergic synapse 💬	[6] GRIA1, GRIA2, GRIA3, GRIA4, GRIN2A, GRIN2B 💬 Dopaminergic synapse × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Riluzole 💬 Dopaminergic synapse × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 57. Dopaminergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
58	Dopaminergic synapse 💬	[6] GRIA1, GRIA2, GRIA3, GRIA4, GRIN2A, GRIN2B 💬 Dopaminergic synapse × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole 💬 Dopaminergic synapse × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 58. Dopaminergic synapse × Disease ID Name 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;
59	Dopaminergic synapse 💬	[6] GRIA1, GRIA2, GRIA3, GRIA4, GRIN2A, GRIN2B 💬 Dopaminergic synapse × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole hydrochloride 💬 Dopaminergic synapse × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 58. Dopaminergic synapse × Disease ID Name 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;
60	Dopaminergic synapse 💬	[1] SLC6A3 💬 Dopaminergic synapse × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrochloride 💬 Dopaminergic synapse × Name Other Names Bupropion hydrochloride Wellbutrin Zyban BUPROPION HCL ER FORFIVO BUPROPION BUPROPION HCL BUPROPION HCL ER(SR) BUPROPION HYDROCHLORIDE SR	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 60. Dopaminergic synapse × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
61	Dopaminergic synapse 💬	[1] SLC6A3 💬 Dopaminergic synapse × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion 💬 Dopaminergic synapse × Name Other Names Bupropion Bupropion	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 60. Dopaminergic synapse × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
62	Dopaminergic synapse 💬	[1] SLC6A3 💬 Dopaminergic synapse × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrobromide 💬 Dopaminergic synapse × Name Other Names Bupropion hydrobromide Aplenzin	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 60. Dopaminergic synapse × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
63	Efferocytosis 💬	[1] EPOR 💬 Efferocytosis × Name Full Name EPOR erythropoietin receptor precursor	Epoetin alfa 💬 Efferocytosis × Name Other Names Epoetin alfa Epoetin kappa Epoetin alfa-epbx Epogen Epoetin alfa BS PROCRIT RETACRIT	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 63. Efferocytosis × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
64	Efferocytosis 💬	[1] EPOR 💬 Efferocytosis × Name Full Name EPOR erythropoietin receptor precursor	Epoetin epsilon 💬 Efferocytosis × Name Other Names Epoetin epsilon Epoetin epsilon	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 63. Efferocytosis × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
65	Efferocytosis 💬	[1] EPOR 💬 Efferocytosis × Name Full Name EPOR erythropoietin receptor precursor	Epoetin theta 💬 Efferocytosis × Name Other Names Epoetin theta Biopoin Eporatio	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 63. Efferocytosis × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
66	Efferocytosis 💬	[1] EPOR 💬 Efferocytosis × Name Full Name EPOR erythropoietin receptor precursor	Epoetin zeta 💬 Efferocytosis × Name Other Names Epoetin zeta Retacrit Silapo	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 63. Efferocytosis × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
67	Endocrine and other factor-regulated calcium reabsorption 💬	[1] VDR 💬 Endocrine and other factor-regulated calcium reabsorption × Name Full Name VDR vitamin D3 receptor isoform VDRA	Calcitriol 💬 Endocrine and other factor-regulated calcium reabsorption × Name Other Names Calcitriol Rocaltrol VECTICAL	Calcitriol	[11] 18, 37, 46, 49, 66, 96, 158, 223, 235, 238, 326 💬 67. Endocrine and other factor-regulated calcium reabsorption × Disease ID Name 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; 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; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 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; 235 Hypoparathyroidism;Accessory thyroid hypergasia disease; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
68	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 💬 68. 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;
69	Fluid shear stress and atherosclerosis 💬	[1] NFE2L2 💬 Fluid shear stress and atherosclerosis × Name Full Name NFE2L2 nuclear factor erythroid 2-related factor 2 isoform 1	Omaveloxolone 💬 Fluid shear stress and atherosclerosis × Name Other Names Omaveloxolone Skyclarys	Omaveloxolone	[1] 18 💬 69. Fluid shear stress and atherosclerosis × Disease ID Name 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;
70	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 💬 70. 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;
71	GABAergic synapse 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 GABAergic synapse × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Flumazenil 💬 GABAergic synapse × Name Other Names Flumazenil Romazicon	Flumazenil	[5]  6 , 13, 17, 18, 206 💬 71. GABAergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 206 Fragile X syndrome;
72	GABAergic synapse 💬	[1] SLC6A1 💬 GABAergic synapse × Name Full Name SLC6A1 sodium- and chloride-dependent GABA transporter 1 isoform a	Gabapentin 💬 GABAergic synapse × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 72. GABAergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
73	Glutamatergic synapse 💬	[14] GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Glutamatergic synapse × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIK1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor GRIK2 glutamate receptor ionotropic, kainate 2 isoform 1 precursor GRIK3 glutamate receptor ionotropic, kainate 3 precursor GRIK4 glutamate receptor ionotropic, kainate 4 isoform 1 precursor GRIK5 glutamate receptor ionotropic, kainate 5 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Glutamatergic synapse × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 73. Glutamatergic synapse × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
74	Glutamatergic synapse 💬	[14] GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Glutamatergic synapse × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIK1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor GRIK2 glutamate receptor ionotropic, kainate 2 isoform 1 precursor GRIK3 glutamate receptor ionotropic, kainate 3 precursor GRIK4 glutamate receptor ionotropic, kainate 4 isoform 1 precursor GRIK5 glutamate receptor ionotropic, kainate 5 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Glutamatergic synapse × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 74. Glutamatergic synapse × Disease ID Name 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;
75	Glutamatergic synapse 💬	[14] GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Glutamatergic synapse × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIK1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor GRIK2 glutamate receptor ionotropic, kainate 2 isoform 1 precursor GRIK3 glutamate receptor ionotropic, kainate 3 precursor GRIK4 glutamate receptor ionotropic, kainate 4 isoform 1 precursor GRIK5 glutamate receptor ionotropic, kainate 5 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Glutamatergic synapse × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 74. Glutamatergic synapse × Disease ID Name 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;
76	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 💬 76. 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;
77	Hematopoietic cell lineage 💬	[1] CSF3R 💬 Hematopoietic cell lineage × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Lenograstim 💬 Hematopoietic cell lineage × Name Other Names Lenograstim Neutrogin	Lenograstim	[8]  2 , 13, 16, 18, 19, 57, 65, 97 💬 77. 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; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 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; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
78	Hematopoietic cell lineage 💬	[1] EPOR 💬 Hematopoietic cell lineage × Name Full Name EPOR erythropoietin receptor precursor	Epoetin alfa 💬 Hematopoietic cell lineage × Name Other Names Epoetin alfa Epoetin kappa Epoetin alfa-epbx Epogen Epoetin alfa BS PROCRIT RETACRIT	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 78. Hematopoietic cell lineage × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
79	Hematopoietic cell lineage 💬	[1] EPOR 💬 Hematopoietic cell lineage × Name Full Name EPOR erythropoietin receptor precursor	Epoetin epsilon 💬 Hematopoietic cell lineage × Name Other Names Epoetin epsilon Epoetin epsilon	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 78. Hematopoietic cell lineage × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
80	Hematopoietic cell lineage 💬	[1] EPOR 💬 Hematopoietic cell lineage × Name Full Name EPOR erythropoietin receptor precursor	Epoetin theta 💬 Hematopoietic cell lineage × Name Other Names Epoetin theta Biopoin Eporatio	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 78. Hematopoietic cell lineage × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
81	Hematopoietic cell lineage 💬	[1] EPOR 💬 Hematopoietic cell lineage × Name Full Name EPOR erythropoietin receptor precursor	Epoetin zeta 💬 Hematopoietic cell lineage × Name Other Names Epoetin zeta Retacrit Silapo	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 78. Hematopoietic cell lineage × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
82	Hepatocellular carcinoma 💬	[1] NFE2L2 💬 Hepatocellular carcinoma × Name Full Name NFE2L2 nuclear factor erythroid 2-related factor 2 isoform 1	Omaveloxolone 💬 Hepatocellular carcinoma × Name Other Names Omaveloxolone Skyclarys	Omaveloxolone	[1] 18 💬 82. Hepatocellular carcinoma × Disease ID Name 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;
83	Herpes simplex virus 1 infection 💬	[2] IFNGR1, IFNGR2 💬 Herpes simplex virus 1 infection × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Herpes simplex virus 1 infection × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 83. Herpes simplex virus 1 infection × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
84	HIF-1 signaling pathway 💬	[2] IFNGR1, IFNGR2 💬 HIF-1 signaling pathway × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 HIF-1 signaling pathway × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 84. HIF-1 signaling pathway × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
85	Hormone signaling 💬	[1] EPOR 💬 Hormone signaling × Name Full Name EPOR erythropoietin receptor precursor	Epoetin alfa 💬 Hormone signaling × Name Other Names Epoetin alfa Epoetin kappa Epoetin alfa-epbx Epogen Epoetin alfa BS PROCRIT RETACRIT	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 85. Hormone 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
86	Hormone signaling 💬	[1] EPOR 💬 Hormone signaling × Name Full Name EPOR erythropoietin receptor precursor	Epoetin epsilon 💬 Hormone signaling × Name Other Names Epoetin epsilon Epoetin epsilon	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 85. Hormone 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
87	Hormone signaling 💬	[1] EPOR 💬 Hormone signaling × Name Full Name EPOR erythropoietin receptor precursor	Epoetin theta 💬 Hormone signaling × Name Other Names Epoetin theta Biopoin Eporatio	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 85. Hormone 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
88	Hormone signaling 💬	[1] EPOR 💬 Hormone signaling × Name Full Name EPOR erythropoietin receptor precursor	Epoetin zeta 💬 Hormone signaling × Name Other Names Epoetin zeta Retacrit Silapo	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 85. Hormone 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
89	Huntington disease 💬	[6] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2B 💬 Huntington disease × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Riluzole 💬 Huntington disease × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 89. Huntington disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
90	Huntington disease 💬	[6] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2B 💬 Huntington disease × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole 💬 Huntington disease × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 90. Huntington disease × Disease ID Name 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;
91	Huntington disease 💬	[6] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2B 💬 Huntington disease × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole hydrochloride 💬 Huntington disease × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 90. Huntington disease × Disease ID Name 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;
92	Hypertrophic cardiomyopathy 💬	[4] CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4 💬 Hypertrophic cardiomyopathy × Name Full Name CACNA2D1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein CACNA2D2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor CACNA2D3 voltage-dependent calcium channel subunit alpha-2/delta-3 precursor CACNA2D4 voltage-dependent calcium channel subunit alpha-2/delta-4	Gabapentin 💬 Hypertrophic cardiomyopathy × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 92. Hypertrophic cardiomyopathy × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
93	Inflammatory bowel disease 💬	[2] IFNGR1, IFNGR2 💬 Inflammatory bowel disease × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Inflammatory bowel disease × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 93. Inflammatory bowel disease × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
94	Influenza A 💬	[2] IFNGR1, IFNGR2 💬 Influenza A × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Influenza A × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 94. Influenza A × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
95	JAK-STAT signaling pathway 💬	[1] CSF3R 💬 JAK-STAT signaling pathway × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Lenograstim 💬 JAK-STAT signaling pathway × Name Other Names Lenograstim Neutrogin	Lenograstim	[8]  2 , 13, 16, 18, 19, 57, 65, 97 💬 95. JAK-STAT 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; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 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; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
96	JAK-STAT signaling pathway 💬	[1] EPOR 💬 JAK-STAT signaling pathway × Name Full Name EPOR erythropoietin receptor precursor	Epoetin alfa 💬 JAK-STAT signaling pathway × Name Other Names Epoetin alfa Epoetin kappa Epoetin alfa-epbx Epogen Epoetin alfa BS PROCRIT RETACRIT	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 96. JAK-STAT 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	JAK-STAT signaling pathway 💬	[1] EPOR 💬 JAK-STAT signaling pathway × Name Full Name EPOR erythropoietin receptor precursor	Epoetin epsilon 💬 JAK-STAT signaling pathway × Name Other Names Epoetin epsilon Epoetin epsilon	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 96. JAK-STAT 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
98	JAK-STAT signaling pathway 💬	[1] EPOR 💬 JAK-STAT signaling pathway × Name Full Name EPOR erythropoietin receptor precursor	Epoetin theta 💬 JAK-STAT signaling pathway × Name Other Names Epoetin theta Biopoin Eporatio	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 96. JAK-STAT 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
99	JAK-STAT signaling pathway 💬	[1] EPOR 💬 JAK-STAT signaling pathway × Name Full Name EPOR erythropoietin receptor precursor	Epoetin zeta 💬 JAK-STAT signaling pathway × Name Other Names Epoetin zeta Retacrit Silapo	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 96. JAK-STAT 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
100	JAK-STAT signaling pathway 💬	[2] IFNGR1, IFNGR2 💬 JAK-STAT signaling pathway × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 JAK-STAT signaling pathway × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 100. JAK-STAT signaling pathway × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
101	Kaposi sarcoma-associated herpesvirus infection 💬	[1] IFNGR1 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor	Interferon gamma-1b 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 101. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
102	Leishmaniasis 💬	[2] IFNGR1, IFNGR2 💬 Leishmaniasis × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Leishmaniasis × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 102. Leishmaniasis × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
103	Lipid and atherosclerosis 💬	[1] NFE2L2 💬 Lipid and atherosclerosis × Name Full Name NFE2L2 nuclear factor erythroid 2-related factor 2 isoform 1	Omaveloxolone 💬 Lipid and atherosclerosis × Name Other Names Omaveloxolone Skyclarys	Omaveloxolone	[1] 18 💬 103. Lipid and atherosclerosis × Disease ID Name 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;
104	Long-term depression 💬	[3] GRIA1, GRIA2, GRIA3 💬 Long-term depression × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor	Riluzole 💬 Long-term depression × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 104. Long-term depression × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
105	Long-term depression 💬	[3] GRIA1, GRIA2, GRIA3 💬 Long-term depression × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor	Troriluzole 💬 Long-term depression × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 105. Long-term depression × Disease ID Name 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;
106	Long-term depression 💬	[3] GRIA1, GRIA2, GRIA3 💬 Long-term depression × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor	Troriluzole hydrochloride 💬 Long-term depression × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 105. Long-term depression × Disease ID Name 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;
107	Long-term potentiation 💬	[7] GRIA1, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Long-term potentiation × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Long-term potentiation × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 107. Long-term potentiation × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
108	Long-term potentiation 💬	[7] GRIA1, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Long-term potentiation × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Long-term potentiation × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 108. Long-term potentiation × Disease ID Name 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;
109	Long-term potentiation 💬	[7] GRIA1, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Long-term potentiation × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Long-term potentiation × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 108. Long-term potentiation × Disease ID Name 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;
110	MAPK signaling pathway 💬	[4] CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4 💬 MAPK signaling pathway × Name Full Name CACNA2D1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein CACNA2D2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor CACNA2D3 voltage-dependent calcium channel subunit alpha-2/delta-3 precursor CACNA2D4 voltage-dependent calcium channel subunit alpha-2/delta-4	Gabapentin 💬 MAPK signaling pathway × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 110. MAPK signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
111	Mineral absorption 💬	[1] VDR 💬 Mineral absorption × Name Full Name VDR vitamin D3 receptor isoform VDRA	Calcitriol 💬 Mineral absorption × Name Other Names Calcitriol Rocaltrol VECTICAL	Calcitriol	[11] 18, 37, 46, 49, 66, 96, 158, 223, 235, 238, 326 💬 111. Mineral absorption × Disease ID Name 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; 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; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 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; 235 Hypoparathyroidism;Accessory thyroid hypergasia disease; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
112	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 💬 112. 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;
113	Morphine addiction 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Morphine addiction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Flumazenil 💬 Morphine addiction × Name Other Names Flumazenil Romazicon	Flumazenil	[5]  6 , 13, 17, 18, 206 💬 113. Morphine addiction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 206 Fragile X syndrome;
114	Natural killer cell mediated cytotoxicity 💬	[2] IFNGR1, IFNGR2 💬 Natural killer cell mediated cytotoxicity × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Natural killer cell mediated cytotoxicity × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 114. Natural killer cell mediated cytotoxicity × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
115	Necroptosis 💬	[2] IFNGR1, IFNGR2 💬 Necroptosis × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Necroptosis × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 115. Necroptosis × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
116	Neuroactive ligand signaling 💬	[2] CHRNA4, CHRNB2 💬 Neuroactive ligand signaling × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline tartrate 💬 Neuroactive ligand signaling × Name Other Names Varenicline tartrate Chantix Champix Tyrvaya VARENICLINE	Varenicline	[4]  6 , 18, 53, 298 💬 116. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
117	Neuroactive ligand signaling 💬	[2] CHRNA4, CHRNB2 💬 Neuroactive ligand signaling × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline 💬 Neuroactive ligand signaling × Name Other Names Varenicline Varenicline	Varenicline	[4]  6 , 18, 53, 298 💬 116. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
118	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 💬 118. 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;
119	Neuroactive ligand signaling 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Neuroactive ligand signaling × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Flumazenil 💬 Neuroactive ligand signaling × Name Other Names Flumazenil Romazicon	Flumazenil	[5]  6 , 13, 17, 18, 206 💬 119. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 206 Fragile X syndrome;
120	Neuroactive ligand signaling 💬	[14] GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand signaling × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIK1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor GRIK2 glutamate receptor ionotropic, kainate 2 isoform 1 precursor GRIK3 glutamate receptor ionotropic, kainate 3 precursor GRIK4 glutamate receptor ionotropic, kainate 4 isoform 1 precursor GRIK5 glutamate receptor ionotropic, kainate 5 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Neuroactive ligand signaling × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 120. Neuroactive ligand signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
121	Neuroactive ligand signaling 💬	[14] GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand signaling × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIK1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor GRIK2 glutamate receptor ionotropic, kainate 2 isoform 1 precursor GRIK3 glutamate receptor ionotropic, kainate 3 precursor GRIK4 glutamate receptor ionotropic, kainate 4 isoform 1 precursor GRIK5 glutamate receptor ionotropic, kainate 5 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Neuroactive ligand signaling × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 121. Neuroactive ligand signaling × Disease ID Name 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;
122	Neuroactive ligand signaling 💬	[14] GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand signaling × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIK1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor GRIK2 glutamate receptor ionotropic, kainate 2 isoform 1 precursor GRIK3 glutamate receptor ionotropic, kainate 3 precursor GRIK4 glutamate receptor ionotropic, kainate 4 isoform 1 precursor GRIK5 glutamate receptor ionotropic, kainate 5 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 121. Neuroactive ligand signaling × Disease ID Name 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;
123	Neuroactive ligand signaling 💬	[1] SLC6A1 💬 Neuroactive ligand signaling × Name Full Name SLC6A1 sodium- and chloride-dependent GABA transporter 1 isoform a	Gabapentin 💬 Neuroactive ligand signaling × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 123. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
124	Neuroactive ligand signaling 💬	[2] SLC6A2, SLC6A3 💬 Neuroactive ligand signaling × Name Full Name SLC6A2 sodium-dependent noradrenaline transporter isoform 2 SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrochloride 💬 Neuroactive ligand signaling × Name Other Names Bupropion hydrochloride Wellbutrin Zyban BUPROPION HCL ER FORFIVO BUPROPION BUPROPION HCL BUPROPION HCL ER(SR) BUPROPION HYDROCHLORIDE SR	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 124. Neuroactive ligand signaling × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
125	Neuroactive ligand signaling 💬	[2] SLC6A2, SLC6A3 💬 Neuroactive ligand signaling × Name Full Name SLC6A2 sodium-dependent noradrenaline transporter isoform 2 SLC6A3 sodium-dependent dopamine transporter	Bupropion 💬 Neuroactive ligand signaling × Name Other Names Bupropion Bupropion	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 124. Neuroactive ligand signaling × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
126	Neuroactive ligand signaling 💬	[2] SLC6A2, SLC6A3 💬 Neuroactive ligand signaling × Name Full Name SLC6A2 sodium-dependent noradrenaline transporter isoform 2 SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrobromide 💬 Neuroactive ligand signaling × Name Other Names Bupropion hydrobromide Aplenzin	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 124. Neuroactive ligand signaling × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
127	Neuroactive ligand signaling 💬	[1] SLC6A4 💬 Neuroactive ligand signaling × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram hydrobromide 💬 Neuroactive ligand signaling × Name Other Names Citalopram hydrobromide Celexa CITALOPRAM	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 127. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
128	Neuroactive ligand signaling 💬	[1] SLC6A4 💬 Neuroactive ligand signaling × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram 💬 Neuroactive ligand signaling × Name Other Names Citalopram Citadur	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 127. Neuroactive ligand signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
129	Neuroactive ligand-receptor interaction 💬	[2] CHRNA4, CHRNB2 💬 Neuroactive ligand-receptor interaction × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline tartrate 💬 Neuroactive ligand-receptor interaction × Name Other Names Varenicline tartrate Chantix Champix Tyrvaya VARENICLINE	Varenicline	[4]  6 , 18, 53, 298 💬 129. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
130	Neuroactive ligand-receptor interaction 💬	[2] CHRNA4, CHRNB2 💬 Neuroactive ligand-receptor interaction × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline 💬 Neuroactive ligand-receptor interaction × Name Other Names Varenicline Varenicline	Varenicline	[4]  6 , 18, 53, 298 💬 129. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
131	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 💬 131. 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;
132	Neuroactive ligand-receptor interaction 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Neuroactive ligand-receptor interaction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Flumazenil 💬 Neuroactive ligand-receptor interaction × Name Other Names Flumazenil Romazicon	Flumazenil	[5]  6 , 13, 17, 18, 206 💬 132. Neuroactive ligand-receptor interaction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 206 Fragile X syndrome;
133	Neuroactive ligand-receptor interaction 💬	[14] GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand-receptor interaction × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIK1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor GRIK2 glutamate receptor ionotropic, kainate 2 isoform 1 precursor GRIK3 glutamate receptor ionotropic, kainate 3 precursor GRIK4 glutamate receptor ionotropic, kainate 4 isoform 1 precursor GRIK5 glutamate receptor ionotropic, kainate 5 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Neuroactive ligand-receptor interaction × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 133. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
134	Neuroactive ligand-receptor interaction 💬	[14] GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand-receptor interaction × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIK1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor GRIK2 glutamate receptor ionotropic, kainate 2 isoform 1 precursor GRIK3 glutamate receptor ionotropic, kainate 3 precursor GRIK4 glutamate receptor ionotropic, kainate 4 isoform 1 precursor GRIK5 glutamate receptor ionotropic, kainate 5 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Neuroactive ligand-receptor interaction × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 134. Neuroactive ligand-receptor interaction × Disease ID Name 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;
135	Neuroactive ligand-receptor interaction 💬	[14] GRIA1, GRIA2, GRIA3, GRIA4, GRIK1, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Neuroactive ligand-receptor interaction × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIK1 glutamate receptor ionotropic, kainate 1 isoform 1 precursor GRIK2 glutamate receptor ionotropic, kainate 2 isoform 1 precursor GRIK3 glutamate receptor ionotropic, kainate 3 precursor GRIK4 glutamate receptor ionotropic, kainate 4 isoform 1 precursor GRIK5 glutamate receptor ionotropic, kainate 5 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Neuroactive ligand-receptor interaction × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 134. Neuroactive ligand-receptor interaction × Disease ID Name 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;
136	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Methylprednisolone 💬 Neuroactive ligand-receptor interaction × Name Other Names Methylprednisolone Medrol	Methylprednisolone	[51]  2 ,  6 , 11, 13, 14, 18, 19, 25, 26, 35, 38, 39, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 60, 62, 63, 64, 65, 66, 83, 84, 85, 86, 93, 95, 96, 97, 111, 127, 145, 162, 164, 211, 222, 223, 224, 271, 283, 284, 285, 296, 300 💬 136. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 39 Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 83 Addison disease;Primary chronic adrenocortical insufficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 211 Hypoplastic left heart syndrome;HLHS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
137	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Methylprednisolone acetate 💬 Neuroactive ligand-receptor interaction × Name Other Names Methylprednisolone acetate Depo-medrol	Methylprednisolone	[51]  2 ,  6 , 11, 13, 14, 18, 19, 25, 26, 35, 38, 39, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 60, 62, 63, 64, 65, 66, 83, 84, 85, 86, 93, 95, 96, 97, 111, 127, 145, 162, 164, 211, 222, 223, 224, 271, 283, 284, 285, 296, 300 💬 136. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 39 Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 60 Aplastic anemia; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 83 Addison disease;Primary chronic adrenocortical insufficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 211 Hypoplastic left heart syndrome;HLHS; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 296 Biliary atresia; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
138	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Prednisolone 💬 Neuroactive ligand-receptor interaction × Name Other Names Prednisolone Delta-cortef	Prednisolone	[48]  3 , 11, 13, 14, 18, 25, 26, 35, 38, 39, 40, 41, 43, 44, 45, 46, 49, 50, 51, 54, 56, 57, 60, 61, 63, 64, 65, 66, 75, 81, 84, 85, 95, 96, 97, 107, 111, 113, 145, 162, 222, 223, 251, 269, 271, 296, 299, 300 💬 138. Neuroactive ligand-receptor interaction × Disease ID Name  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 25 Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 35 Pemphigus; 38 Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome; 39 Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 54 Adult still disease;Adult-onset Still's disease; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 75 Cushing disease;Cushing syndrome; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 111 Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 251 Urea cycle disorder;Primary hyperammonemia;Carbamoyl phosphate synthetase I deficiency;CPSI deficiency;Ornithine transcarbamylase deficiency;OTC deficiency;Classic citrullinemia;Citrullinemia type I;Argininosuccinic aciduria;Argininemia;N-acetylglutamate synthase deficiency;NAGS deficiency; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 296 Biliary atresia; 299 Cystic fibrosis;CF; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
139	Neuroactive ligand-receptor interaction 💬	[1] NR3C1 💬 Neuroactive ligand-receptor interaction × Name Full Name NR3C1 glucocorticoid receptor isoform alpha	Prednisone 💬 Neuroactive ligand-receptor interaction × Name Other Names Prednisone Prednisone monohydrate Deltasone Meticorten Rayos	Prednisone	[58]  2 , 11, 13, 14, 18, 19, 26, 28, 35, 40, 41, 42, 43, 44, 45, 46, 48, 49, 50, 51, 53, 60, 61, 63, 64, 65, 66, 79, 81, 84, 85, 86, 90, 93, 95, 96, 97, 113, 127, 145, 162, 164, 205, 222, 223, 224, 228, 251, 269, 283, 284, 285, 288, 299, 300, 303, 307, 331 💬 139. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS; 11 Myasthenia gravis;MG; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 14 Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 26 HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM; 28 Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis; 35 Pemphigus; 40 Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome; 41 Giant cell arteritis;Temporal arteritis; 42 Polyarteritis nodosa;PAN; 43 Microscopic polyangiitis;MPA;Glomerulonephritis; 44 Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis; 45 Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 48 Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome; 49 Systemic lupus erythematosus;SLE; 50 Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 60 Aplastic anemia; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 64 Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 81 Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency; 84 Sarcoidosis; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 86 Pulmonary arterial hypertension;PAH; 90 Retinitis pigmentosa;Rod dystrophy;Cone-rod dystrophy;Rod-Cone Dystrophy; 93 Primary biliary cholangitis;Primary biliary cirrhosis;PBC; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia; 145 West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome; 162 Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa; 164 Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome; 205 Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome; 222 Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis; 223 Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN; 224 Purpura nephritis;Henoch-Schönlein purpura nephritis;HSPN; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 251 Urea cycle disorder;Primary hyperammonemia;Carbamoyl phosphate synthetase I deficiency;CPSI deficiency;Ornithine transcarbamylase deficiency;OTC deficiency;Classic citrullinemia;Citrullinemia type I;Argininosuccinic aciduria;Argininemia;N-acetylglutamate synthase deficiency;NAGS deficiency; 269 Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome; 283 Acquired pure red cell aplasia;Pure red cell aplasia; 284 Diamond-Blackfan anemia; 285 Fanconi anemia; 288 Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;Acquired factor XIII deficiency;Autoimmune acquired factor XIII (F13) deficiency;Acquired factor VIII deficiency;Autoimmune acquired factor VIII (F8) deficiency;Acquired hemophilia A;VWF deficiency;Acquired von Willebrand syndrome;Acquired von Willebrand Disease;AVWS;AVWD;Acquired factor V deficiency;Autoimmune acquired factor V (F5) deficiency;Acquired factor X deficiency; 299 Cystic fibrosis;CF; 300 IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease; 303 Usher syndrome; 307 Canavan disease; 331 Idiopathic multicentric castleman disease;iMCD;Castleman disease;
140	Nicotine addiction 💬	[2] CHRNA4, CHRNB2 💬 Nicotine addiction × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline tartrate 💬 Nicotine addiction × Name Other Names Varenicline tartrate Chantix Champix Tyrvaya VARENICLINE	Varenicline	[4]  6 , 18, 53, 298 💬 140. Nicotine addiction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
141	Nicotine addiction 💬	[2] CHRNA4, CHRNB2 💬 Nicotine addiction × Name Full Name CHRNA4 neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor CHRNB2 neuronal acetylcholine receptor subunit beta-2 precursor	Varenicline 💬 Nicotine addiction × Name Other Names Varenicline Varenicline	Varenicline	[4]  6 , 18, 53, 298 💬 140. Nicotine addiction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 298 Hereditary pancreatitis;Chronic pancreatitis;
142	Nicotine addiction 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Nicotine addiction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Flumazenil 💬 Nicotine addiction × Name Other Names Flumazenil Romazicon	Flumazenil	[5]  6 , 13, 17, 18, 206 💬 142. Nicotine addiction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 206 Fragile X syndrome;
143	Nicotine addiction 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Nicotine addiction × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Nicotine addiction × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 143. Nicotine addiction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
144	Nicotine addiction 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Nicotine addiction × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Nicotine addiction × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 144. Nicotine addiction × Disease ID Name 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;
145	Nicotine addiction 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Nicotine addiction × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Nicotine addiction × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 144. Nicotine addiction × Disease ID Name 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;
146	Osteoclast differentiation 💬	[2] IFNGR1, IFNGR2 💬 Osteoclast differentiation × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Osteoclast differentiation × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 146. Osteoclast differentiation × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
147	Oxytocin signaling pathway 💬	[4] CACNA2D1, CACNA2D2, CACNA2D3, CACNA2D4 💬 Oxytocin signaling pathway × Name Full Name CACNA2D1 voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein CACNA2D2 voltage-dependent calcium channel subunit alpha-2/delta-2 isoform c precursor CACNA2D3 voltage-dependent calcium channel subunit alpha-2/delta-3 precursor CACNA2D4 voltage-dependent calcium channel subunit alpha-2/delta-4	Gabapentin 💬 Oxytocin signaling pathway × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 147. Oxytocin signaling pathway × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
148	Parathyroid hormone synthesis, secretion and action 💬	[1] VDR 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name VDR vitamin D3 receptor isoform VDRA	Calcitriol 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Calcitriol Rocaltrol VECTICAL	Calcitriol	[11] 18, 37, 46, 49, 66, 96, 158, 223, 235, 238, 326 💬 148. Parathyroid hormone synthesis, secretion and action × Disease ID Name 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; 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; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 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; 235 Hypoparathyroidism;Accessory thyroid hypergasia disease; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
149	Parkinson disease 💬	[1] NFE2L2 💬 Parkinson disease × Name Full Name NFE2L2 nuclear factor erythroid 2-related factor 2 isoform 1	Omaveloxolone 💬 Parkinson disease × Name Other Names Omaveloxolone Skyclarys	Omaveloxolone	[1] 18 💬 149. Parkinson disease × Disease ID Name 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;
150	Parkinson disease 💬	[1] SLC6A3 💬 Parkinson disease × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrochloride 💬 Parkinson disease × Name Other Names Bupropion hydrochloride Wellbutrin Zyban BUPROPION HCL ER FORFIVO BUPROPION BUPROPION HCL BUPROPION HCL ER(SR) BUPROPION HYDROCHLORIDE SR	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 150. Parkinson disease × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
151	Parkinson disease 💬	[1] SLC6A3 💬 Parkinson disease × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion 💬 Parkinson disease × Name Other Names Bupropion Bupropion	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 150. Parkinson disease × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
152	Parkinson disease 💬	[1] SLC6A3 💬 Parkinson disease × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrobromide 💬 Parkinson disease × Name Other Names Bupropion hydrobromide Aplenzin	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 150. Parkinson disease × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
153	Pathways in cancer 💬	[1] CSF3R 💬 Pathways in cancer × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Lenograstim 💬 Pathways in cancer × Name Other Names Lenograstim Neutrogin	Lenograstim	[8]  2 , 13, 16, 18, 19, 57, 65, 97 💬 153. Pathways 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; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 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; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
154	Pathways in cancer 💬	[1] EPOR 💬 Pathways in cancer × Name Full Name EPOR erythropoietin receptor precursor	Epoetin alfa 💬 Pathways in cancer × Name Other Names Epoetin alfa Epoetin kappa Epoetin alfa-epbx Epogen Epoetin alfa BS PROCRIT RETACRIT	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 154. Pathways in cancer × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
155	Pathways in cancer 💬	[1] EPOR 💬 Pathways in cancer × Name Full Name EPOR erythropoietin receptor precursor	Epoetin epsilon 💬 Pathways in cancer × Name Other Names Epoetin epsilon Epoetin epsilon	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 154. Pathways in cancer × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
156	Pathways in cancer 💬	[1] EPOR 💬 Pathways in cancer × Name Full Name EPOR erythropoietin receptor precursor	Epoetin theta 💬 Pathways in cancer × Name Other Names Epoetin theta Biopoin Eporatio	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 154. Pathways in cancer × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
157	Pathways in cancer 💬	[1] EPOR 💬 Pathways in cancer × Name Full Name EPOR erythropoietin receptor precursor	Epoetin zeta 💬 Pathways in cancer × Name Other Names Epoetin zeta Retacrit Silapo	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 154. Pathways in cancer × 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
158	Pathways in cancer 💬	[2] IFNGR1, IFNGR2 💬 Pathways in cancer × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Pathways in cancer × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 158. Pathways in cancer × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
159	Pathways in cancer 💬	[1] NFE2L2 💬 Pathways in cancer × Name Full Name NFE2L2 nuclear factor erythroid 2-related factor 2 isoform 1	Omaveloxolone 💬 Pathways in cancer × Name Other Names Omaveloxolone Skyclarys	Omaveloxolone	[1] 18 💬 159. Pathways in cancer × Disease ID Name 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;
160	Pathways of neurodegeneration - multiple diseases 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 160. Pathways of neurodegeneration - multiple diseases × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
161	Pathways of neurodegeneration - multiple diseases 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 161. Pathways of neurodegeneration - multiple diseases × Disease ID Name 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;
162	Pathways of neurodegeneration - multiple diseases 💬	[9] GRIA1, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 161. Pathways of neurodegeneration - multiple diseases × Disease ID Name 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;
163	Pathways of neurodegeneration - multiple diseases 💬	[1] SLC6A3 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrochloride 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Bupropion hydrochloride Wellbutrin Zyban BUPROPION HCL ER FORFIVO BUPROPION BUPROPION HCL BUPROPION HCL ER(SR) BUPROPION HYDROCHLORIDE SR	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 163. Pathways of neurodegeneration - multiple diseases × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
164	Pathways of neurodegeneration - multiple diseases 💬	[1] SLC6A3 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Bupropion Bupropion	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 163. Pathways of neurodegeneration - multiple diseases × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
165	Pathways of neurodegeneration - multiple diseases 💬	[1] SLC6A3 💬 Pathways of neurodegeneration - multiple diseases × Name Full Name SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrobromide 💬 Pathways of neurodegeneration - multiple diseases × Name Other Names Bupropion hydrobromide Aplenzin	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 163. Pathways of neurodegeneration - multiple diseases × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
166	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[2] IFNGR1, IFNGR2 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 166. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
167	PI3K-Akt signaling pathway 💬	[1] CSF3R 💬 PI3K-Akt signaling pathway × Name Full Name CSF3R granulocyte colony-stimulating factor receptor isoform a precursor	Lenograstim 💬 PI3K-Akt signaling pathway × Name Other Names Lenograstim Neutrogin	Lenograstim	[8]  2 , 13, 16, 18, 19, 57, 65, 97 💬 167. PI3K-Akt 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; 16 Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 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; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
168	PI3K-Akt signaling pathway 💬	[1] EPOR 💬 PI3K-Akt signaling pathway × Name Full Name EPOR erythropoietin receptor precursor	Epoetin alfa 💬 PI3K-Akt signaling pathway × Name Other Names Epoetin alfa Epoetin kappa Epoetin alfa-epbx Epogen Epoetin alfa BS PROCRIT RETACRIT	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 168. PI3K-Akt 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
169	PI3K-Akt signaling pathway 💬	[1] EPOR 💬 PI3K-Akt signaling pathway × Name Full Name EPOR erythropoietin receptor precursor	Epoetin epsilon 💬 PI3K-Akt signaling pathway × Name Other Names Epoetin epsilon Epoetin epsilon	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 168. PI3K-Akt 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
170	PI3K-Akt signaling pathway 💬	[1] EPOR 💬 PI3K-Akt signaling pathway × Name Full Name EPOR erythropoietin receptor precursor	Epoetin theta 💬 PI3K-Akt signaling pathway × Name Other Names Epoetin theta Biopoin Eporatio	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 168. PI3K-Akt 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
171	PI3K-Akt signaling pathway 💬	[1] EPOR 💬 PI3K-Akt signaling pathway × Name Full Name EPOR erythropoietin receptor precursor	Epoetin zeta 💬 PI3K-Akt signaling pathway × Name Other Names Epoetin zeta Retacrit Silapo	Erythropoietin	[11]  2 ,  6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬 168. PI3K-Akt 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; 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; 22 Moyamoya disease;Occlusive disease in circle of Willis; 47 Buerger disease;Thromboangiitis obliterans; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome; 63 Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura; 70 Spinal stenosis;Extensive spinal canal stenosis; 95 Autoimmune hepatitis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
172	Prion disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Prion disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Prion disease × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 172. Prion disease × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
173	Prion disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Prion disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Prion disease × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 173. Prion disease × Disease ID Name 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;
174	Prion disease 💬	[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Prion disease × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Prion disease × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 173. Prion disease × Disease ID Name 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;
175	Protein processing in endoplasmic reticulum 💬	[1] NFE2L2 💬 Protein processing in endoplasmic reticulum × Name Full Name NFE2L2 nuclear factor erythroid 2-related factor 2 isoform 1	Omaveloxolone 💬 Protein processing in endoplasmic reticulum × Name Other Names Omaveloxolone Skyclarys	Omaveloxolone	[1] 18 💬 175. Protein processing in endoplasmic reticulum × Disease ID Name 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;
176	Rap1 signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Rap1 signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Riluzole 💬 Rap1 signaling pathway × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 176. Rap1 signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
177	Rap1 signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Rap1 signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole 💬 Rap1 signaling pathway × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 177. Rap1 signaling pathway × Disease ID Name 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;
178	Rap1 signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Rap1 signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole hydrochloride 💬 Rap1 signaling pathway × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 177. Rap1 signaling pathway × Disease ID Name 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;
179	Ras signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Ras signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Riluzole 💬 Ras signaling pathway × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 179. Ras signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
180	Ras signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Ras signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole 💬 Ras signaling pathway × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 180. Ras signaling pathway × Disease ID Name 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;
181	Ras signaling pathway 💬	[3] GRIN1, GRIN2A, GRIN2B 💬 Ras signaling pathway × Name Full Name GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole hydrochloride 💬 Ras signaling pathway × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 180. Ras signaling pathway × Disease ID Name 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;
182	Retrograde endocannabinoid signaling 💬	[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬 Retrograde endocannabinoid signaling × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor GABRD gamma-aminobutyric acid receptor subunit delta precursor GABRE gamma-aminobutyric acid receptor subunit epsilon precursor GABRG1 gamma-aminobutyric acid receptor subunit gamma-1 precursor GABRG2 gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor GABRG3 gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor GABRP gamma-aminobutyric acid receptor subunit pi isoform 1 precursor GABRQ gamma-aminobutyric acid receptor subunit theta precursor	Flumazenil 💬 Retrograde endocannabinoid signaling × Name Other Names Flumazenil Romazicon	Flumazenil	[5]  6 , 13, 17, 18, 206 💬 182. Retrograde endocannabinoid signaling × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 206 Fragile X syndrome;
183	Retrograde endocannabinoid signaling 💬	[4] GRIA1, GRIA2, GRIA3, GRIA4 💬 Retrograde endocannabinoid signaling × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor	Riluzole 💬 Retrograde endocannabinoid signaling × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 183. Retrograde endocannabinoid signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
184	Retrograde endocannabinoid signaling 💬	[4] GRIA1, GRIA2, GRIA3, GRIA4 💬 Retrograde endocannabinoid signaling × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor	Troriluzole 💬 Retrograde endocannabinoid signaling × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 184. Retrograde endocannabinoid signaling × Disease ID Name 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;
185	Retrograde endocannabinoid signaling 💬	[4] GRIA1, GRIA2, GRIA3, GRIA4 💬 Retrograde endocannabinoid signaling × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIA4 glutamate receptor 4 isoform 1 precursor	Troriluzole hydrochloride 💬 Retrograde endocannabinoid signaling × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 184. Retrograde endocannabinoid signaling × Disease ID Name 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;
186	Serotonergic synapse 💬	[3] GABRB1, GABRB2, GABRB3 💬 Serotonergic synapse × Name Full Name GABRB1 gamma-aminobutyric acid receptor subunit beta-1 precursor GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor GABRB3 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor	Flumazenil 💬 Serotonergic synapse × Name Other Names Flumazenil Romazicon	Flumazenil	[5]  6 , 13, 17, 18, 206 💬 186. Serotonergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 206 Fragile X syndrome;
187	Serotonergic synapse 💬	[1] SLC6A4 💬 Serotonergic synapse × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram hydrobromide 💬 Serotonergic synapse × Name Other Names Citalopram hydrobromide Celexa CITALOPRAM	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 187. Serotonergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
188	Serotonergic synapse 💬	[1] SLC6A4 💬 Serotonergic synapse × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram 💬 Serotonergic synapse × Name Other Names Citalopram Citadur	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 187. Serotonergic synapse × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
189	Spinocerebellar ataxia 💬	[8] GRIA1, GRIA2, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Spinocerebellar ataxia × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Riluzole 💬 Spinocerebellar ataxia × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 189. Spinocerebellar ataxia × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
190	Spinocerebellar ataxia 💬	[8] GRIA1, GRIA2, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Spinocerebellar ataxia × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole 💬 Spinocerebellar ataxia × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 190. Spinocerebellar ataxia × Disease ID Name 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;
191	Spinocerebellar ataxia 💬	[8] GRIA1, GRIA2, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬 Spinocerebellar ataxia × Name Full Name GRIA1 glutamate receptor 1 isoform 1 precursor GRIA2 glutamate receptor 2 isoform 1 precursor GRIA3 glutamate receptor 3 isoform 2 precursor GRIN1 glutamate receptor ionotropic, NMDA 1 isoform GluN1-1a precursor GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor GRIN2C glutamate receptor ionotropic, NMDA 2C isoform 1 precursor GRIN2D glutamate receptor ionotropic, NMDA 2D precursor	Troriluzole hydrochloride 💬 Spinocerebellar ataxia × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 190. Spinocerebellar ataxia × Disease ID Name 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;
192	Synaptic vesicle cycle 💬	[1] SLC6A1 💬 Synaptic vesicle cycle × Name Full Name SLC6A1 sodium- and chloride-dependent GABA transporter 1 isoform a	Gabapentin 💬 Synaptic vesicle cycle × Name Other Names Gabapentin Neurontin Gralise GABARONE RELGAABI	Gabapentin	[7]  6 , 13, 18, 19, 70, 226, 298 💬 192. Synaptic vesicle cycle × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 18 Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 70 Spinal stenosis;Extensive spinal canal stenosis; 226 Interstitial cystitis with Hunners ulcer;Interstitial cystitis; 298 Hereditary pancreatitis;Chronic pancreatitis;
193	Synaptic vesicle cycle 💬	[2] SLC6A2, SLC6A3 💬 Synaptic vesicle cycle × Name Full Name SLC6A2 sodium-dependent noradrenaline transporter isoform 2 SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrochloride 💬 Synaptic vesicle cycle × Name Other Names Bupropion hydrochloride Wellbutrin Zyban BUPROPION HCL ER FORFIVO BUPROPION BUPROPION HCL BUPROPION HCL ER(SR) BUPROPION HYDROCHLORIDE SR	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 193. Synaptic vesicle cycle × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
194	Synaptic vesicle cycle 💬	[2] SLC6A2, SLC6A3 💬 Synaptic vesicle cycle × Name Full Name SLC6A2 sodium-dependent noradrenaline transporter isoform 2 SLC6A3 sodium-dependent dopamine transporter	Bupropion 💬 Synaptic vesicle cycle × Name Other Names Bupropion Bupropion	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 193. Synaptic vesicle cycle × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
195	Synaptic vesicle cycle 💬	[2] SLC6A2, SLC6A3 💬 Synaptic vesicle cycle × Name Full Name SLC6A2 sodium-dependent noradrenaline transporter isoform 2 SLC6A3 sodium-dependent dopamine transporter	Bupropion hydrobromide 💬 Synaptic vesicle cycle × Name Other Names Bupropion hydrobromide Aplenzin	Bupropion	[7]  8 , 18, 21, 96, 97, 171, 298 💬 193. Synaptic vesicle cycle × Disease ID Name  8  Huntington disease;Huntington chorea;Huntington syndrome; 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; 21 Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 171 Wilson disease;WD; 298 Hereditary pancreatitis;Chronic pancreatitis;
196	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram hydrobromide 💬 Synaptic vesicle cycle × Name Other Names Citalopram hydrobromide Celexa CITALOPRAM	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 196. Synaptic vesicle cycle × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
197	Synaptic vesicle cycle 💬	[1] SLC6A4 💬 Synaptic vesicle cycle × Name Full Name SLC6A4 sodium-dependent serotonin transporter	Citalopram 💬 Synaptic vesicle cycle × Name Other Names Citalopram Citadur	Citalopram	[7]  6 ,  8 , 13, 18, 46, 98, 127 💬 196. Synaptic vesicle cycle × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;  8  Huntington disease;Huntington chorea;Huntington syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 98 Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE; 127 Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
198	Systemic lupus erythematosus 💬	[2] GRIN2A, GRIN2B 💬 Systemic lupus erythematosus × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Riluzole 💬 Systemic lupus erythematosus × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 198. Systemic lupus erythematosus × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
199	Systemic lupus erythematosus 💬	[2] GRIN2A, GRIN2B 💬 Systemic lupus erythematosus × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole 💬 Systemic lupus erythematosus × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 199. Systemic lupus erythematosus × Disease ID Name 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;
200	Systemic lupus erythematosus 💬	[2] GRIN2A, GRIN2B 💬 Systemic lupus erythematosus × Name Full Name GRIN2A glutamate receptor ionotropic, NMDA 2A isoform 1 precursor GRIN2B glutamate receptor ionotropic, NMDA 2B isoform a precursor	Troriluzole hydrochloride 💬 Systemic lupus erythematosus × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 199. Systemic lupus erythematosus × Disease ID Name 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;
201	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 💬 201. 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;
202	Taste transduction 💬	[6] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6 💬 Taste transduction × Name Full Name GABRA1 gamma-aminobutyric acid receptor subunit alpha-1 precursor GABRA2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor GABRA3 gamma-aminobutyric acid receptor subunit alpha-3 precursor GABRA4 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor GABRA5 gamma-aminobutyric acid receptor subunit alpha-5 precursor GABRA6 gamma-aminobutyric acid receptor subunit alpha-6 precursor	Flumazenil 💬 Taste transduction × Name Other Names Flumazenil Romazicon	Flumazenil	[5]  6 , 13, 17, 18, 206 💬 202. Taste transduction × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 13 Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 206 Fragile X syndrome;
203	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin calcium 💬 Terpenoid backbone biosynthesis × Name Other Names Rosuvastatin calcium ZD 4522 Crestor ROSUVASTAIN CALCIUM ROSUVASTATIN ROSUVSTATIN	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 203. Terpenoid backbone biosynthesis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 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; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
204	Terpenoid backbone biosynthesis 💬	[1] HMGCR 💬 Terpenoid backbone biosynthesis × Name Full Name HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1	Rosuvastatin 💬 Terpenoid backbone biosynthesis × Name Other Names Rosuvastatin Creston	Rosuvastatin	[16]  6 , 18, 46, 49, 51, 56, 57, 62, 65, 67, 79, 94, 96, 97, 271, 299 💬 203. Terpenoid backbone biosynthesis × Disease ID Name  6  Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome; 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; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 49 Systemic lupus erythematosus;SLE; 51 Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc; 56 Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease; 57 Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM; 62 Paroxysmal nocturnal hemoglobinuria;PNH; 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; 67 Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD; 79 Homozygous familial hypercholesterolemia;Familial hypercholesterolemia;Familial hypercholesterolaemia; 94 Primary sclerosing cholangitis;PSC; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 271 Ankylosing spondylitis;Spondylarthritis ankylopoietica; 299 Cystic fibrosis;CF;
205	Th1 and Th2 cell differentiation 💬	[2] IFNGR1, IFNGR2 💬 Th1 and Th2 cell differentiation × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Th1 and Th2 cell differentiation × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 205. Th1 and Th2 cell differentiation × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
206	Th17 cell differentiation 💬	[2] IFNGR1, IFNGR2 💬 Th17 cell differentiation × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Th17 cell differentiation × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 206. Th17 cell differentiation × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
207	Toxoplasmosis 💬	[2] IFNGR1, IFNGR2 💬 Toxoplasmosis × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Toxoplasmosis × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 207. Toxoplasmosis × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
208	Transcriptional misregulation in cancer 💬	[1] GRIA3 💬 Transcriptional misregulation in cancer × Name Full Name GRIA3 glutamate receptor 3 isoform 2 precursor	Riluzole 💬 Transcriptional misregulation in cancer × Name Other Names Riluzole Rilutek TIGLUTIK	Riluzole	[9]  2 ,  3 ,  5 ,  8 , 13, 17, 18, 203, 206 💬 208. Transcriptional misregulation in cancer × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;  5  Progressive supranuclear palsy;PSP;  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; 17 Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome; 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; 203 22q11.2 deletion syndrome; 206 Fragile X syndrome;
209	Transcriptional misregulation in cancer 💬	[1] GRIA3 💬 Transcriptional misregulation in cancer × Name Full Name GRIA3 glutamate receptor 3 isoform 2 precursor	Troriluzole 💬 Transcriptional misregulation in cancer × Name Other Names Troriluzole Troriluzole	Troriluzole	[1] 18 💬 209. Transcriptional misregulation in cancer × Disease ID Name 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;
210	Transcriptional misregulation in cancer 💬	[1] GRIA3 💬 Transcriptional misregulation in cancer × Name Full Name GRIA3 glutamate receptor 3 isoform 2 precursor	Troriluzole hydrochloride 💬 Transcriptional misregulation in cancer × Name Other Names Troriluzole hydrochloride Troriluzole hydrochloride	Troriluzole	[1] 18 💬 209. Transcriptional misregulation in cancer × Disease ID Name 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;
211	Tuberculosis 💬	[2] IFNGR1, IFNGR2 💬 Tuberculosis × Name Full Name IFNGR1 interferon gamma receptor 1 isoform 1 precursor IFNGR2 interferon gamma receptor 2 isoform 2 precursor	Interferon gamma-1b 💬 Tuberculosis × Name Other Names Interferon gamma-1b Actimmune	Interferon gamma-1b	[7] 18, 65, 85, 228, 299, 301, 326 💬 211. Tuberculosis × Disease ID Name 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; 85 Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE; 228 Bronchiolitis obliterans;Obliterating bronchiolitis; 299 Cystic fibrosis;CF; 301 Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;
212	Tuberculosis 💬	[1] VDR 💬 Tuberculosis × Name Full Name VDR vitamin D3 receptor isoform VDRA	Calcitriol 💬 Tuberculosis × Name Other Names Calcitriol Rocaltrol VECTICAL	Calcitriol	[11] 18, 37, 46, 49, 66, 96, 158, 223, 235, 238, 326 💬 212. Tuberculosis × Disease ID Name 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; 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; 66 IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 158 Tuberous sclerosis;Tuberous sclerosis complex;TSC; 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; 235 Hypoparathyroidism;Accessory thyroid hypergasia disease; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 326 Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;

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