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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 |
|---|---|---|---|---|---|
| C0001973 | Alcoholic Intoxication, Chronic | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0010495 | Cutis Laxa | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0878544 | Cardiomyopathies | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0678222 | Breast Carcinoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0029089 | Ophthalmoplegia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0020555 | Hypertrichosis | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| 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 |
