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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

[5] 6 , 140, 144, 156, 193 💬

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIA1	glutamate ionotropic receptor AMPA type subunit 1
GRIA2	glutamate ionotropic receptor AMPA type subunit 2
GRIA3	glutamate ionotropic receptor AMPA type subunit 3
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Riluzole 💬

Riluzole

[8] 2 , 3 , 5 , 8 , 13, 17, 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;
5	Progressive supranuclear palsy;PSP;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
17	Multiple system atrophy;MSA;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome;
203	22q11.2 deletion syndrome;
206	Fragile X syndrome;

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Acamprosate calcium 💬

Acamprosate

[2] 6 , 206 💬

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Acamprosate 💬

Acamprosate

[2] 6 , 206 💬

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Amantadine hydrochloride 💬

Amantadine

[5] 2 , 6 , 8 , 13, 127 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
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 ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Amantadine 💬

Amantadine

[5] 2 , 6 , 8 , 13, 127 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
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 ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

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;
8	Huntington disease;Huntington chorea;
13	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 ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

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;
8	Huntington disease;Huntington chorea;
13	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 ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

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;
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 ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

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;
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 ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Ketamine hydrochloride 💬

Ketamine

[6] 6 , 13, 70, 113, 156, 215 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	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;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy;
156	Rett syndrome;
215	Tetralogy of Fallot;Fallot tetralogy;

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Ketamine 💬

Ketamine

[6] 6 , 13, 70, 113, 156, 215 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	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;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy;
156	Rett syndrome;
215	Tetralogy of Fallot;Fallot tetralogy;

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Latrepirdine 💬

Latrepirdine

[1] 8 💬

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Latrepirdine dihydrochloride 💬

Latrepirdine

[1] 8 💬

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

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;
8	Huntington disease;Huntington chorea;
13	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 ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

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;
8	Huntington disease;Huntington chorea;
13	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 ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Methadone hydrochloride 💬

Methadone

[1] 60 💬

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Methadone 💬

Methadone

[1] 60 💬

Spinocerebellar ataxia 💬

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

Name	Full Name
GRIN1	glutamate ionotropic receptor NMDA type subunit 1
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B
GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D

Tenocyclidine 💬

Tenocyclidine

[1] 36 💬

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;
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;
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

[4] 3 , 4 , 13, 14 💬

Disease ID	Name
3	Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;
4	Primary lateral sclerosis;PLS;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy;

Spinocerebellar ataxia 💬

[1] KCND3 💬

Amiodarone hydrochloride 💬

Amiodarone

[1] 127 💬

Spinocerebellar ataxia 💬

[1] KCND3 💬

Amiodarone 💬

Amiodarone

[1] 127 💬

Spinocerebellar ataxia 💬

[1] MAP3K5 💬

Selonsertib 💬

Selonsertib

[1] 86 💬

Spinocerebellar ataxia 💬

[1] MTOR 💬

Everolimus 💬

Everolimus

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

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 PKD;ADPKD;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;

Spinocerebellar ataxia 💬

[1] MTOR 💬

Sirolimus 💬

Sirolimus

[46] 2 , 6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 97, 98, 137, 157, 158, 192, 193, 222, 227, 256, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome;
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;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;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;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;
49	Systemic lupus erythematosus;SLE;
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;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;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;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant PKD;ADPKD;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;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
98	Eosinophilic gastro-intestinal 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;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;MPGN;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
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;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;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;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;
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;
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;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;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_B_D 💬

Alpelisib 💬

Alpelisib

[4] 138, 278, 279, 280 💬

Disease ID	Name
138	Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;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;
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] PIK3CA_B_D 💬

Leniolisib phosphate 💬

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;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;

Spinocerebellar ataxia 💬

[1] PIK3CA_B_D 💬

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 💬

[2] PIK3CA_B_D, PIK3CA_B_D 💬

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;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;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;

Spinocerebellar ataxia 💬

[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬

Leniolisib 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

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

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

[18] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 172, 222, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	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;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;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;Primary immune thrombocytopenia;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
172	Hypophosphatasia;
222	Primary nephrotic syndrome;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Membranoproliferative glomerulonephritis;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;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Forbes disease;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;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;Factor XIII deficiency;Factor VIII deficiency;Acquired hemophilia A;VWF deficiency;von Willebrand Disease;VWD;Factor V deficiency;Factor X deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Spinocerebellar ataxia 💬

[1] PSMB5 💬

Carfilzomib 💬

Carfilzomib

[1] 28 💬

Disease ID

Name

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;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis;

Spinocerebellar ataxia 💬

[1] PSMB5 💬

Ixazomib 💬

Ixazomib

[4] 13, 16, 28, 51 💬

Disease ID	Name
13	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;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;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;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;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Hereditary systemic amyloidosis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;