MCC, MCC regulator of WNT signaling pathway, 4163

N. diseases: 110; N. variants: 17
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		0.010 GeneticVariation disease BEFREE Our study shows that nonspecific phenotypes attributed to MCCD are associated with consanguinity and are likely not due to mutations in the MCC enzyme but result from rare homozygous mutations in other disease genes.Genet Med 17 8, 660-667. 25356967 2015