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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C0033578 | Prostatic Neoplasms | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0524620 | Metabolic Syndrome X | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0235991 | Small for gestational age (disorder) | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0036572 | Seizures | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C4721453 | Peripheral Nervous System Diseases | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0206698 | Cholangiocarcinoma | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0020255 | Hydrocephalus | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0546837 | Malignant neoplasm of esophagus | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0751597 | Ataxia with Lactic Acidosis, Type I | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0038356 | Stomach Neoplasms | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0752347 | Lewy Body Disease | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
