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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 ▼ |
|---|---|---|---|---|---|
| C0014038 | Encephalitis | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C1384666 | hearing impairment | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0524851 | Neurodegenerative Disorders | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| 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 |
| C3150736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0013336 | Dwarfism | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0028738 | Nystagmus | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0018784 | Sensorineural Hearing Loss (disorder) | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0040034 | Thrombocytopenia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0028077 | Nyctalopia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0035334 | Retinitis Pigmentosa | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0452138 | Sensorineural hearing loss, bilateral | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0235991 | Small for gestational age (disorder) | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0015934 | Fetal Growth Retardation | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0009081 | Congenital clubfoot | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0264611 | Apraxia of Phonation | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0015300 | Exophthalmos | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1845667 | RETINITIS PIGMENTOSA 3 | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0003635 | Apraxias | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
