Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 CausalMutation disease CLINVAR Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 15359379 2004
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease CLINVAR Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. 15359379 2004
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease CLINVAR Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 14680978 2003
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 CausalMutation disease CLINVAR Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. 14680978 2003
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 Biomarker disease CLINGEN The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 CausalMutation disease CLINVAR The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease UNIPROT These data provide evidence that human MCC deficiency is caused by mutations in either the MCCA or MCCB gene. 11406611 2001
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease UNIPROT The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 CausalMutation disease CLINVAR The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease CLINVAR The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease UNIPROT The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 Biomarker disease CLINGEN These data provide evidence that human MCC deficiency is caused by mutations in either the MCCA or MCCB gene. 11406611 2001
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 Biomarker disease CTD_human
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		0.520 Biomarker disease CLINGEN 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		0.520 GeneticVariation disease BEFREE A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		0.520 GermlineCausalMutation disease ORPHANET A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		0.520 Biomarker disease CLINGEN 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		0.520 GermlineCausalMutation disease ORPHANET 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		0.520 Biomarker disease CLINGEN Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484 2007
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		0.520 GeneticVariation disease BEFREE Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 16835865 2006
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		0.520 Biomarker disease CLINGEN The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		0.520 Biomarker disease CLINGEN The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001
Entrez Id: 9440
Gene Symbol: MED17
MED17 		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