GCDH, glutaryl-CoA dehydrogenase, 2639

N. diseases: 72; N. variants: 121
Disease: Glutaric aciduria, type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.800 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495 2014
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224 2014
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054 2012
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. 21176883 2011
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry. 20978942 2011
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. 19433437 2009
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.800 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954 2008
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Glutaric aciduria type I: outcome following detection by newborn screening. 18683078 2008
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393 2004
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.800 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522 2003
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.800 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243 1998
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. 9711871 1998
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.800 GeneticVariation UNIPROT Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227 1996
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.800 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228 1996
dbSNP: rs150938052
rs150938052
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.800 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831 1995