Pyruvate dehydrogenase deficiency
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Pyruvate Dehydrogenase E2 Deficiency | C1855565, 79244 | DLAT | 20022530, 16049940, 27604308, 19891062 |
| Pyruvate Dehydrogenase E1 Alpha Deficiency | C1839413 | PDHA1 | 7757088, 7573035, 1907799, 8504306, 17043409, 26865159, 10679936, 1293379, 20002461, 21914562, 8032855, 1338114, 27864847, 8664900, 11241048, 8844217, 8498846, 8771169, 11102541, 7545958, 21846590, 9266390, 1301207, 9671272, 1551669, 8199595, 7887409, 15384102, 20002125, 10775534, 7967473, 1909401, 25590979, 27604308 |
| PDHX | |||
| LONP1 | 30304514 | ||
| Pyruvate Dehydrogenase E1-Beta Deficiency | C3279841, 255138 | PDHB | 26865159, 15138885, 19924563, 26014431, 27604308 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency | C1855553, 255182 | PDHX | 25087164, 9399911, 12557299 |
| Pyruvate dehydrogenase E1-alpha deficiency | 79243 | PDHA1 | |
| LONP1 |