Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257

2016

Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. 25382614

2015

Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865

2012

Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation 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: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012

Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 21071250

2011

Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484

2007

Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. 16010683

2005

Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888

2001

Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649

2001

Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
3-methylcrotonyl CoA carboxylase 2 deficiency
0.700 GeneticVariation UNIPROT Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. 11406611

2001