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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 ▼ |
|---|---|---|---|---|---|
| C0036857 | Severe intellectual disability | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0086237 | Epilepsy, Cryptogenic | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C1855995 | L-2-HYDROXYGLUTARIC ACIDURIA | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0017636 | Glioblastoma | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C3714756 | Intellectual Disability | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0028738 | Nystagmus | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0013421 | Dystonia | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0036572 | Seizures | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0278878 | Adult Glioblastoma | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0025517 | Metabolic Diseases | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0014544 | Epilepsy | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0007134 | Renal Cell Carcinoma | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C3152055 | D-2-HYDROXYGLUTARIC ACIDURIA 1 | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0270786 | Binswanger Disease | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0038379 | Strabismus | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0027766 | Nervous System Neoplasms | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0006118 | Brain Neoplasms | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0029124 | Optic Atrophy | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0036857 | Severe intellectual disability | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0236018 | Aura | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C1621958 | Glioblastoma Multiforme | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C3888081 | L-2-hydroxyglutaric acidemia | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
