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 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: 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 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 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 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: 8864
Gene Symbol: PER2
PER2 		0.010 GeneticVariation disease BEFREE During the study period, 2,959,108 infants were screened and 71 infants were diagnosed with 3-MCCD for an overall incidence of 1:41,676. 24103308 2013
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
Entrez Id: 4163
Gene Symbol: MCC
MCC 		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
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 GeneticVariation disease CLINVAR 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
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 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 GeneticVariation 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 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 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 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 GeneticVariation disease CLINVAR 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012