3-methylcrotonyl coa carboxylase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
3-methylcrotonyl CoA carboxylase 1 deficiency C0268600 MCCC1 Causal Pathogenic evidence from ClinVar 11170888, 11181649, 11406611, 14680978, 15359379, 16010683, 16835865, 17968484, 21071250, 22150417, 22264772, 22642865, 24078573, 24816252, 25356967, 25382614, 27601257 ClinVar
MCCC2 Causal Pathogenic evidence from ClinVar 11170888, 11181649, 17968484, 22264772, 22642865, 27601257 ClinVar
3-methylcrotonyl-CoA carboxylase deficiency 6 MCCC1 Causal Pathogenic evidence from ClinVar - ClinVar
MCCC2 Causal Pathogenic evidence from ClinVar - ClinVar
3-methylcrotonyl CoA carboxylase 2 deficiency C1859499 MCCC2 Causal Pathogenic evidence from ClinVar 11170888, 11181649, 11406611, 16010683, 17908719, 17968484, 21071250, 22030835, 22150417, 22264772, 22642865, 25087612, 25356967, 25382614, 27601257, 27604308, 28018443 ClinVar