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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 |
|---|---|---|---|---|---|
| C0016057 | Fibrosarcoma | PC | 5091 | pyruvate carboxylase | P11498 |
| C0023520 | Leukodystrophy | PC | 5091 | pyruvate carboxylase | P11498 |
| C0036323 | Schistosomiasis | PC | 5091 | pyruvate carboxylase | P11498 |
| C0020550 | Hyperthyroidism | PC | 5091 | pyruvate carboxylase | P11498 |
| C0037198 | Sinus Thrombosis, Intracranial | PC | 5091 | pyruvate carboxylase | P11498 |
| C0027051 | Myocardial Infarction | PC | 5091 | pyruvate carboxylase | P11498 |
| C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0026650 | Movement Disorders | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0023264 | Leigh Disease | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0034345 | Pyruvate Dehydrogenase Complex Deficiency Disease | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0600139 | Prostate carcinoma | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0751651 | Mitochondrial Diseases | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0001125 | Acidosis, Lactic | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0007758 | Cerebellar Ataxia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0005745 | Blepharoptosis | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0235946 | Cerebral atrophy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1839413 | Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0038379 | Strabismus | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0024623 | Malignant neoplasm of stomach | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0020555 | Hypertrichosis | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0006826 | Malignant Neoplasms | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
