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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 |
|---|---|---|---|---|---|
| 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 |
| C0005745 | Blepharoptosis | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0027651 | Neoplasms | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0678222 | Breast Carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0684249 | Carcinoma of lung | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0151744 | Myocardial Ischemia | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0005695 | Bladder Neoplasm | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0009402 | Colorectal Carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C4551995 | Mitochondrial DNA Depletion Syndrome 1 | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C1306459 | Primary malignant neoplasm | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C4721610 | Carcinoma, Ovarian Epithelial | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0038356 | Stomach Neoplasms | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0699791 | Stomach Carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0699790 | Colon Carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0235974 | Pancreatic carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0024623 | Malignant neoplasm of stomach | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0011991 | Diarrhea | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C4721806 | Carcinoma, Basal Cell | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C1848586 | Visceral myopathy familial external ophthalmoplegia | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0279626 | Squamous cell carcinoma of esophagus | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0242379 | Malignant neoplasm of lung | TYMP | 1890 | thymidine phosphorylase | P19971 |
