Propionic acidemia

Disease Term Disease ID Gene Symbol Classification References Source
Propionic acidemia 35, C0268579 PCCA Causal Pathogenic evidence from ClinVar 8083196, 8225321, 8411997, 9887338, 10101253, 10329019, 10780784, 11592820, 12385775, 12559849, 15059621, 15235904, 15464417, 17051315, 18414145, 19099776, 19157943, 20549364, 20725044, 21094621, 22033733, 22156789, 22334403, 23053474, 24464666, 24863100, 25047749, 26740382, 27227689, 27489777, 27604308, 27825584, 27900673, 28712602, 29033250, 30159853 ClinVar
PCCB Causal Pathogenic evidence from ClinVar 2154743, 2249848, 8023851, 8295402, 8411997, 9452096, 9683601, 10447268, 10780784, 11136555, 11749052, 12007220, 12189489, 12409268, 12559849, 12757933, 12888983, 15059621, 15464417, 15890657, 15949719, 17415538, 19238581, 20549364, 20725044, 22033733, 22334403, 23053474, 23430860, 24059531, 24863100, 24916042, 25047749, 25087612, 25865301, 27227689, 27243974, 27578510, 27604308, 27776753, 27900673, 28649556, 30014764, 30274917 ClinVar
MCCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC22A5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24816252, 27604308 -
UQCRFS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -