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Gene

Search results

No.

KEGG PATHWAY
On map, Yellow: Drug target, Red: All disease-related

Spinocerebellar ataxia 💬

[3] GRIA1, GRIA2, GRIA3 💬

Perampanel 💬

Perampanel

[3] 2 , 6 , 144 💬

Spinocerebellar ataxia 💬

[3] GRIA1, GRIA2, GRIA3 💬

Perampanel hydrate 💬

Perampanel

[3] 2 , 6 , 144 💬

Spinocerebellar ataxia 💬

[3] GRIA1, GRIA2, GRIA3 💬

Talampanel 💬

Talampanel

[2] 2 , 6 💬

Spinocerebellar ataxia 💬

[3] GRIA1, GRIA2, GRIA3 💬

Topiramate 💬

Topiramate

[6] 6 , 97, 140, 144, 156, 193 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
140	Dorabe syndrome;Dravet syndrome;
144	Lennox-Gastaut syndrome;
156	Rett syndrome;
193	Prader-Willi syndrome;

Spinocerebellar ataxia 💬

[8] GRIA1, GRIA2, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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 💬

Riluzole

[9] 2 , 3 , 5 , 8 , 13, 17, 18, 203, 206 💬

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;

Spinocerebellar ataxia 💬

[8] GRIA1, GRIA2, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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 💬

Troriluzole

[1] 18 💬

Disease ID

Name

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;

Spinocerebellar ataxia 💬

[8] GRIA1, GRIA2, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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 💬

Troriluzole

[1] 18 💬

Disease ID

Name

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Acamprosate calcium 💬

Acamprosate

[3] 2 , 6 , 206 💬

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Acamprosate 💬

Acamprosate

[3] 2 , 6 , 206 💬

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Amantadine hydrochloride 💬

Amantadine

[5] 2 , 6 , 8 , 13, 127 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Amantadine 💬

Amantadine

[5] 2 , 6 , 8 , 13, 127 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Dextromethorphan hydrobromide 💬

Dextromethorphan

[10] 2 , 6 , 8 , 13, 21, 46, 85, 96, 97, 156 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
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;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
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;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
156	Rett syndrome;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Dextromethorphan 💬

Dextromethorphan

[10] 2 , 6 , 8 , 13, 21, 46, 85, 96, 97, 156 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
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;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
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;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
156	Rett syndrome;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Dextromethorphan polistirex 💬

Dextromethorphan

[10] 2 , 6 , 8 , 13, 21, 46, 85, 96, 97, 156 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
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;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
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;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
156	Rett syndrome;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Esketamine 💬

Esketamine

[7] 2 , 4 , 6 , 70, 96, 97, 156 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
4	Primary lateral sclerosis;PLS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
70	Spinal stenosis;Extensive spinal canal stenosis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
156	Rett syndrome;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Esketamine hydrochloride 💬

Esketamine

[7] 2 , 4 , 6 , 70, 96, 97, 156 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
4	Primary lateral sclerosis;PLS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
70	Spinal stenosis;Extensive spinal canal stenosis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
156	Rett syndrome;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Ketamine hydrochloride 💬

Ketamine

[6] 6 , 13, 70, 113, 156, 215 💬

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;
70	Spinal stenosis;Extensive spinal canal stenosis;
113	Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy;
156	Rett syndrome;
215	Tetralogy of Fallot;Fallot tetralogy;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Ketamine 💬

Ketamine

[6] 6 , 13, 70, 113, 156, 215 💬

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;
70	Spinal stenosis;Extensive spinal canal stenosis;
113	Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy;
156	Rett syndrome;
215	Tetralogy of Fallot;Fallot tetralogy;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Latrepirdine 💬

Latrepirdine

[1] 8 💬

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Latrepirdine dihydrochloride 💬

Latrepirdine

[1] 8 💬

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Memantine hydrochloride 💬

Memantine

[8] 2 , 6 , 8 , 13, 49, 127, 205, 206 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
49	Systemic lupus erythematosus;SLE;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
205	Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome;
206	Fragile X syndrome;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Memantine 💬

Memantine

[8] 2 , 6 , 8 , 13, 49, 127, 205, 206 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
49	Systemic lupus erythematosus;SLE;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
205	Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;Fragile X-associated tremor;Ataxia syndrome;
206	Fragile X syndrome;

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Methadone hydrochloride 💬

Methadone

[1] 60 💬

Spinocerebellar ataxia 💬

[5] GRIN1, GRIN2A, GRIN2B, GRIN2C, GRIN2D 💬

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

Methadone 💬

Methadone

[1] 60 💬

Spinocerebellar ataxia 💬

[1] GRIN2B 💬

Radiprodil 💬

Radiprodil

[3] 137, 145, 158 💬

Disease ID	Name
137	Focal cortical dysplasia;FCD;
145	West syndrome;Infantile spasm;Infantile spasms;Infantile spasms syndrome;Infantile epileptic spasms;Infantile epileptic spasms syndrome;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;

Spinocerebellar ataxia 💬

[2] KCNC3, KCND3 💬

Amifampridine 💬

Amifampridine

[3] 3 , 11, 12 💬

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;
12	Congenital myasthenic syndrome;End-plate acetylcholine receptor deficiency;Slow-channel congenital myasthenic syndrome;Fast-channel congenital myasthenic syndrome;Sodium channel myasthenia;End-plate acetylcholine esterase deficiency;Congenital myasthenic syndrome with episodic apnoea;Dok-7 myasthenia;DOK7 congenital myasthenic syndrome;

Spinocerebellar ataxia 💬

[2] KCNC3, KCND3 💬

Amifampridine phosphate 💬

Amifampridine

[3] 3 , 11, 12 💬

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;
12	Congenital myasthenic syndrome;End-plate acetylcholine receptor deficiency;Slow-channel congenital myasthenic syndrome;Fast-channel congenital myasthenic syndrome;Sodium channel myasthenia;End-plate acetylcholine esterase deficiency;Congenital myasthenic syndrome with episodic apnoea;Dok-7 myasthenia;DOK7 congenital myasthenic syndrome;

Spinocerebellar ataxia 💬

[2] KCNC3, KCND3 💬

Dalfampridine 💬

Dalfampridine

[2] 4 , 13 💬

Disease ID	Name
4	Primary lateral sclerosis;PLS;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;

Spinocerebellar ataxia 💬

[1] KCND3 💬

Amiodarone hydrochloride 💬

Amiodarone

[3] 28, 67, 127 💬

Disease ID	Name
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;
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;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;

Spinocerebellar ataxia 💬

[1] KCND3 💬

Amiodarone 💬

Amiodarone

[3] 28, 67, 127 💬

Disease ID	Name
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;
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;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;

Spinocerebellar ataxia 💬

[1] MAP3K5 💬

Selonsertib 💬

Selonsertib

[1] 86 💬

Spinocerebellar ataxia 💬

[1] MTOR 💬

Everolimus 💬

Everolimus

[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
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;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;

Spinocerebellar ataxia 💬

[1] MTOR 💬

Sirolimus 💬

Sirolimus

[46] 6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬

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;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;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;
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;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
36	Epidermolysis bullosa;Kindler syndrome;
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;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
54	Adult still disease;Adult-onset Still's 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;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
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;
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;
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;
89	Lymphangioleiomyomatosis;LAM;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
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;
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;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
192	Cockayne syndrome;CS;
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;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
285	Fanconi anemia;
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;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Spinocerebellar ataxia 💬

[1] MTOR 💬

Temsirolimus 💬

Temsirolimus

[4] 13, 34, 89, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
89	Lymphangioleiomyomatosis;LAM;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Spinocerebellar ataxia 💬

[1] PIK3C3 💬

Fimepinostat 💬

Fimepinostat

[1] 75 💬

Spinocerebellar ataxia 💬

[1] PIK3CA 💬

Alpelisib 💬

Alpelisib

[4] 138, 278, 279, 280 💬

Disease ID	Name
138	Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;

Spinocerebellar ataxia 💬

[3] PIK3CA, PIK3CB, PIK3CD 💬

Name	Full Name
PIK3CA	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
PIK3CB	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform isoform 1
PIK3CD	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform 1

Leniolisib 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

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;

Spinocerebellar ataxia 💬

[2] PIK3CA, PIK3CD 💬

Copanlisib 💬

Copanlisib

[1] 121 💬

Disease ID

Name

121

Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Neuroferritinopathy;FTL;NBIA3;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;KRS;Woodhouse-Sakati syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;

Spinocerebellar ataxia 💬

[1] PIK3CD 💬

Leniolisib phosphate 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

Spinocerebellar ataxia 💬

[1] PIK3CD 💬

Parsaclisib 💬

Parsaclisib

[3] 35, 53, 61 💬

Disease ID	Name
35	Pemphigus;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;

Spinocerebellar ataxia 💬

[1] PRKCB 💬

Enzastaurin hydrochloride 💬

Enzastaurin

[1] 168 💬

Disease ID

Name

168

Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS;

Spinocerebellar ataxia 💬

[1] PRKCB 💬

Enzastaurin 💬

Enzastaurin

[1] 168 💬

Disease ID

Name

168

Spinocerebellar ataxia 💬

[1] PSMB5 💬

Bortezomib 💬

Bortezomib

[19] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 223, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
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;
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;
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;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
172	Hypophosphatasia;
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;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
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;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Spinocerebellar ataxia 💬

[1] PSMB5 💬

Carfilzomib 💬

Carfilzomib

[2] 16, 28 💬

Disease ID

Name

Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome;

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;

Spinocerebellar ataxia 💬

[1] PSMB5 💬

Ixazomib 💬

Ixazomib

[4] 13, 16, 28, 51 💬

Disease ID	Name
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;
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;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;

Spinocerebellar ataxia 💬

[1] PSMB5 💬

Ixazomib citrate 💬

Ixazomib

[4] 13, 16, 28, 51 💬

Disease ID	Name
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;
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;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;