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 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 UNIPROT 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 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 GeneticVariation disease UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
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 GeneticVariation disease UNIPROT Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484 2007
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease UNIPROT 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 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: 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 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 GeneticVariation disease UNIPROT Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 21071250 2011
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease UNIPROT 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 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 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
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
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		0.730 GeneticVariation disease UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417 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