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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 |
|---|---|---|---|---|---|
| C0699885 | Carcinoma of bladder | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C4048328 | cervical cancer | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0278878 | Adult Glioblastoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0162292 | External Ophthalmoplegia | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0023520 | Leukodystrophy | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C2749864 | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0007222 | Cardiovascular Diseases | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0271623 | Hypogonadotropic hypogonadism | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0031117 | Peripheral Neuropathy | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0238463 | Papillary thyroid carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0030421 | Paraganglioma | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0025521 | Inborn Errors of Metabolism | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0677886 | Epithelial ovarian cancer | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0036572 | Seizures | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0007194 | Hypertrophic Cardiomyopathy | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0001125 | Acidosis, Lactic | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0024623 | Malignant neoplasm of stomach | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0013421 | Dystonia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| 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 |
