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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 ▼ |
|---|---|---|---|---|---|
| C1266044 | Collecting Duct Carcinoma of the Kidney | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C1266043 | Sarcomatoid Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0023264 | Leigh Disease | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C1306837 | Papillary Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0007134 | Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0751597 | Ataxia with Lactic Acidosis, Type I | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0027051 | Myocardial Infarction | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0376358 | Malignant neoplasm of prostate | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0085578 | Thalassemia Minor | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0027651 | Neoplasms | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0027947 | Neutropenia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0007131 | Non-Small Cell Lung Carcinoma | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0011991 | Diarrhea | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C1306459 | Primary malignant neoplasm | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0152018 | Esophageal carcinoma | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0038356 | Stomach Neoplasms | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0268130 | Hereditary orotic aciduria, type 1 | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0009402 | Colorectal Carcinoma | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0279626 | Squamous cell carcinoma of esophagus | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C1708349 | Hereditary Diffuse Gastric Cancer | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0007137 | Squamous cell carcinoma | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0949116 | Congenital hypoplastic anemia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C1956346 | Coronary Artery Disease | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0009404 | Colorectal Neoplasms | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
