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 GermlineCausalMutation disease ORPHANET 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 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 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 GermlineCausalMutation disease ORPHANET 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
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 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 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
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 CausalMutation disease CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967 2015
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 CausalMutation disease CLINVAR [Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]. 24078573 2013
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 CausalMutation disease CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 CausalMutation disease CLINVAR Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 16835865 2006
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 CausalMutation disease CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683 2005
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 Biomarker disease CTD_human
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 Biomarker disease CLINGEN 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
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 Biomarker disease BEFREE An important emerging insight from this human MCCA transcriptome in combination with previous reports is that chronic exposure to the primary and secondary metabolites of MCC deficiency and the resulting oxidative stress might impact adversely on the quality of life and energy levels, irrespective of whether MCC deficient individuals are clinically affected or asymptomatic. 27417235 2016
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 Biomarker disease CLINGEN Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 25382614 2015
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 Biomarker disease GENOMICS_ENGLAND
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 GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
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 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 Biomarker disease CLINGEN The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001