Pyruvate dehydrogenase complex deficiency disease

Disease Term Disease ID Gene Symbol Classification References Source
Pyruvate dehydrogenase E3 deficiency 2394 DLD Causal Pathogenic evidence from ClinVar - ClinVar
Pyruvate Dehydrogenase Complex Deficiency Disease C0034345 DLAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16049940, 20022530 -
LONP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30304514 -
PDHA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2378353, 10679936, 15384102, 20002461, 21914562 -
PDHB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15138885 -
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease C0751595 PDHA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2378353 -
PDHB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15138885 -
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal C0751596 PDHA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2378353 -
PDHB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15138885 -