×
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
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
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
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
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
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
Biomarker
disease
GENOMICS_ENGLAND
An atlas of genetic influences on human blood metabolites.
24816252
2014
×
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
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
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
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
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:
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:
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
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
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
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
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
CausalMutation
disease
CLINVAR
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
16010683
2005