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 |
---|---|---|---|---|---|
C0025521 | Inborn Errors of Metabolism | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0002871 | Anemia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0152018 | Esophageal carcinoma | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0029408 | Degenerative polyarthritis | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C2239176 | Liver carcinoma | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0013421 | Dystonia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0027651 | Neoplasms | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0029124 | Optic Atrophy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0035334 | Retinitis Pigmentosa | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0376358 | Malignant neoplasm of prostate | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0018818 | Ventricular Septal Defects | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0036857 | Severe intellectual disability | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0023520 | Leukodystrophy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0037769 | West Syndrome | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0007194 | Hypertrophic Cardiomyopathy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0014859 | Esophageal Neoplasms | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0028738 | Nystagmus | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0265252 | Coffin-Lowry syndrome | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C1531647 | Cerebral ventriculomegaly | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0030567 | Parkinson Disease | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0014544 | Epilepsy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C1306459 | Primary malignant neoplasm | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C1168401 | Squamous cell carcinoma of the head and neck | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0151744 | Myocardial Ischemia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
C0029089 | Ophthalmoplegia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
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Last updated: August 19, 2024