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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 |
|---|---|---|---|---|---|
| C0019159 | Hepatitis A | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0025517 | Metabolic Diseases | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0018818 | Ventricular Septal Defects | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0013384 | Dyskinetic syndrome | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0006142 | Malignant neoplasm of breast | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0023520 | Leukodystrophy | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0038356 | Stomach Neoplasms | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0002871 | Anemia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0027651 | Neoplasms | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| 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 |
