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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 |
|---|---|---|---|---|---|
| C0000768 | Congenital Abnormality | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C0021364 | Male infertility | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHA2 | 5161 | pyruvate dehydrogenase E1 subunit alpha 2 | P29803 |
| C1266042 | Chromophobe Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0006142 | Malignant neoplasm of breast | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0001125 | Acidosis, Lactic | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C3279841 | Pyruvate Dehydrogenase E1-Beta Deficiency | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0025202 | melanoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C3642346 | Luminal B Breast Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0678222 | Breast Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| 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 |
| C0011849 | Diabetes Mellitus | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1855553 | Pyruvate Dehydrogenase E3-Binding Protein Deficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0037772 | Spastic Paraplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0346647 | Malignant neoplasm of pancreas | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0027651 | Neoplasms | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
