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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 |
|---|---|---|---|---|---|
| C0699791 | Stomach Carcinoma | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0007789 | Cerebral Palsy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1384666 | hearing impairment | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0007097 | Carcinoma | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1708349 | Hereditary Diffuse Gastric Cancer | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1276035 | Pena-Shokeir syndrome type I | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0085583 | Choreoathetosis | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0393593 | Dystonia Disorders | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1720189 | Episodic Ataxia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0025958 | Microcephaly | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0279626 | Squamous cell carcinoma of esophagus | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C3714756 | Intellectual Disability | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0039101 | synovial sarcoma | PC | 5091 | pyruvate carboxylase | P11498 |
| C0002875 | Cooley's anemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C1306459 | Primary malignant neoplasm | PC | 5091 | pyruvate carboxylase | P11498 |
| C0010068 | Coronary heart disease | PC | 5091 | pyruvate carboxylase | P11498 |
| C1861172 | Venous Thromboembolism | PC | 5091 | pyruvate carboxylase | P11498 |
| C0020456 | Hyperglycemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PC | 5091 | pyruvate carboxylase | P11498 |
| C0268553 | Hyperlysinemias | PC | 5091 | pyruvate carboxylase | P11498 |
| C0311370 | Lupus anticoagulant disorder | PC | 5091 | pyruvate carboxylase | P11498 |
| C0006142 | Malignant neoplasm of breast | PC | 5091 | pyruvate carboxylase | P11498 |
| C0153452 | Malignant neoplasm of gallbladder | PC | 5091 | pyruvate carboxylase | P11498 |
| C0034341 | Pyruvate Carboxylase Deficiency Disease | PC | 5091 | pyruvate carboxylase | P11498 |
| C3714756 | Intellectual Disability | PC | 5091 | pyruvate carboxylase | P11498 |
