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 |
---|---|---|---|---|---|
C0019158 | Hepatitis | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
C0036857 | Severe intellectual disability | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
C1708349 | Hereditary Diffuse Gastric Cancer | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
C0023264 | Leigh Disease | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
C0028754 | Obesity | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
C2239176 | Liver carcinoma | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
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 |
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