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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 |
|---|---|---|---|---|---|
| C0017636 | Glioblastoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0025521 | Inborn Errors of Metabolism | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0035334 | Retinitis Pigmentosa | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0029124 | Optic Atrophy | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1257763 | Overnutrition | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0038379 | Strabismus | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0278878 | Adult Glioblastoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1842534 | DYSTONIA 18 (disorder) | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1384666 | hearing impairment | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C4721453 | Peripheral Nervous System Diseases | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0699791 | Stomach Carcinoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0005745 | Blepharoptosis | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0028738 | Nystagmus | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0006826 | Malignant Neoplasms | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0751267 | Encephalopathy, Subacute Necrotizing, Infantile | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0345904 | Malignant neoplasm of liver | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1306459 | Primary malignant neoplasm | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1621958 | Glioblastoma Multiforme | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0023529 | Leukomalacia, Periventricular | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0393593 | Dystonia Disorders | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0007682 | CNS disorder | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C3696376 | 3-Methylglutaconic Aciduria | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C4721610 | Carcinoma, Ovarian Epithelial | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C1140680 | Malignant neoplasm of ovary | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0699885 | Carcinoma of bladder | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
