MCCC2, methylcrotonoyl-CoA carboxylase 2, 64087

N. diseases: 50; N. variants: 50
Disease: Propionic acidemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.110 GeneticVariation disease BEFREE Thus, we have constructed three site-directed mutants of biotin carboxylase that are homologous to three missense mutations found in propionic acidemia or methylcrotonylglycinuria patients. 14960587 2004
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.110 Biomarker disease HPO