|
| 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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| 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 |
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 |
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 |
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 |
|
| 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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atlas of genetic influences on human blood metabolites.
|
24816252 |
2014 |
|
| 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 |
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 |
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 |
Biomarker
|
disease |
CLINGEN |
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
|
11181649 |
2001 |
|
| 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 |
Biomarker
|
disease |
CLINGEN |
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
|
22642865 |
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: |
64087 |
| Gene Symbol: |
MCCC2 |
MCCC2
|
0.520 |
Biomarker
|
disease |
CLINGEN |
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
|
11170888 |
2001 |
|
| 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: |
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 |