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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 |
|---|---|---|---|---|---|
| C1833382 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0878500 | Intraepithelial Neoplasia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0030297 | Pancreatic Neoplasm | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1335302 | Pancreatic Ductal Adenocarcinoma | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0001418 | Adenocarcinoma | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0013421 | Dystonia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0006142 | Malignant neoplasm of breast | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0023264 | Leigh Disease | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0265535 | Trigonocephaly | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1458155 | Mammary Neoplasms | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0015934 | Fetal Growth Retardation | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0029124 | Optic Atrophy | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0001125 | Acidosis, Lactic | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0013274 | Patent ductus arteriosus | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0025517 | Metabolic Diseases | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0426970 | Spastic Quadriplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1319315 | Adenocarcinoma of large intestine | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0023892 | Biliary cirrhosis | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0025958 | Microcephaly | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0085110 | Severe Combined Immunodeficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0085584 | Encephalopathies | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0029463 | Osteosarcoma | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0006142 | Malignant neoplasm of breast | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0242379 | Malignant neoplasm of lung | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
