Pyruvate dehydrogenase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Pyruvate dehydrogenase E2 deficiency 79244 DLAT Causal Pathogenic evidence from ClinVar - ClinVar
Pyruvate Dehydrogenase E2 Deficiency C1855565 DLAT Causal Pathogenic evidence from ClinVar 16049940, 19891062, 20022530, 27604308 ClinVar
Pyruvate Dehydrogenase E1 Alpha Deficiency C1839413 PDHA1 Causal Pathogenic evidence from ClinVar 1293379, 1301207, 1338114, 1551669, 1907799, 1909401, 7545958, 7573035, 7757088, 7887409, 7967473, 8032855, 8199595, 8498846, 8504306, 8664900, 8771169, 8844217, 9266390, 9671272, 10679936, 10775534, 11102541, 11241048, 15384102, 17043409, 20002125, 20002461, 21846590, 21914562, 25590979, 26865159, 27604308, 27864847 ClinVar
PDHX Causal Pathogenic evidence from ClinVar - ClinVar
LONP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30304514 -
Pyruvate dehydrogenase E1-alpha deficiency 79243 PDHA1 Causal Pathogenic evidence from ClinVar - ClinVar
LONP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pyruvate dehydrogenase E1-beta deficiency 255138 PDHB Causal Pathogenic evidence from ClinVar - ClinVar
Pyruvate Dehydrogenase E1-Beta Deficiency C3279841 PDHB Causal Pathogenic evidence from ClinVar 15138885, 19924563, 26014431, 26865159, 27604308 ClinVar
Pyruvate dehydrogenase E3-binding protein deficiency 255182 PDHX Causal Pathogenic evidence from ClinVar - ClinVar
Pyruvate Dehydrogenase E3-Binding Protein Deficiency C1855553 PDHX Causal Pathogenic evidence from ClinVar 9399911, 12557299, 25087164 ClinVar