rs776641008, MCCC1

N. diseases: 1
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
3-methylcrotonyl CoA carboxylase 1 deficiency
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
0.700 CausalMutation CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
3-methylcrotonyl CoA carboxylase 1 deficiency
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
0.700 CausalMutation CLINVAR Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 15359379 2004
3-methylcrotonyl CoA carboxylase 1 deficiency
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
0.700 CausalMutation CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001