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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID ▲ | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0268631 | succinic semialdehyde dehydrogenase deficiency | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0270853 | Juvenile Myoclonic Epilepsy | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0014544 | Epilepsy | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0026650 | Movement Disorders | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752205 | Dystonia, Secondary | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0393593 | Dystonia Disorders | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0038220 | Status Epilepticus | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0520947 | Clumsiness - motor delay | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0270850 | Idiopathic generalized epilepsy | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0919267 | ovarian neoplasm | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0276289 | Zika Virus Infection | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C4721610 | Carcinoma, Ovarian Epithelial | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0033975 | Psychotic Disorders | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0004352 | Autistic Disorder | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752197 | Adult-Onset Dystonias | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0041296 | Tuberculosis | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C3714756 | Intellectual Disability | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0751265 | Learning Disabilities | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0393598 | Idiopathic familial dystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752208 | Pseudodystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0743332 | Focal Dystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752207 | Familial Dystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0014548 | Epilepsy, Generalized | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752206 | Dystonias, Sporadic | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
