Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease CLINVAR Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk. 28018443 2016
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 CausalMutation disease CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 CausalMutation disease CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967 2015
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease UNIPROT Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 25382614 2015
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 CausalMutation disease CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease CLINVAR A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease UNIPROT A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 CausalMutation disease CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417 2012
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease CLINVAR Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. 22030835 2012
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease CLINVAR Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417 2012
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 CausalMutation disease CLINVAR A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease UNIPROT Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 21071250 2011
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 CausalMutation disease CLINVAR Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 21071250 2011
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease CLINVAR Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. 17908719 2007
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease CLINVAR Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484 2007
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease UNIPROT Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484 2007
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683 2005
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683 2005
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation disease UNIPROT The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001