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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 ▲ |
|---|---|---|---|---|---|
| C1845667 | RETINITIS PIGMENTOSA 3 | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0003635 | Apraxias | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0235946 | Cerebral atrophy | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0005779 | Blood Coagulation Disorders | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0027947 | Neutropenia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0025958 | Microcephaly | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C3888417 | CATARACT 5, MULTIPLE TYPES | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0086543 | Cataract | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0520947 | Clumsiness - motor delay | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0007131 | Non-Small Cell Lung Carcinoma | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0684249 | Carcinoma of lung | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C2267227 | Bulimia Nervosa | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0026847 | Spinal Muscular Atrophy | CHODL | 140578 | chondrolectin | Q9H9P2 |
| C0027651 | Neoplasms | CHODL | 140578 | chondrolectin | Q9H9P2 |
| 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 |
