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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 ▲ |
|---|---|---|---|---|---|
| C1858725 | NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0010278 | Craniosynostosis | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0021390 | Inflammatory Bowel Diseases | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0023418 | leukemia | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0036572 | Seizures | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0003850 | Arteriosclerosis | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0023264 | Leigh Disease | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0006142 | Malignant neoplasm of breast | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0009398 | Color vision defect | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0020757 | Ichthyoses | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0242383 | Age related macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0036572 | Seizures | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0456909 | Blindness | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0020620 | Hypohidrosis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0265961 | Erythrokeratodermia variabilis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C2239176 | Liver carcinoma | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1838644 | Stargardt disease 3 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0015397 | Disorder of eye | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C4282180 | Juvenile macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1855465 | STARGARDT DISEASE 1 (disorder) | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1858080 | Retinal Dystrophy, Early Onset Severe | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0028738 | Nystagmus | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1851481 | Erythrokeratodermia with ataxia | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0024437 | Macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0524851 | Neurodegenerative Disorders | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
