Gene: MCCC1 ×
Source: INFERRED ×
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 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 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 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 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 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 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 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 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 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 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