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: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. 28062662 2017
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223 2017
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223 2017
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism. 27243974 2016
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. 27397597 2016
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542 2016
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. 25255367 2015
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
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: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224 2014
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224 2014
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. 23395213 2013
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. 23395213 2013
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation 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: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR [Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I]. 21811973 2011
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. 19433437 2009
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
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: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393 2004
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
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: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052 2000
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. 11073722 2000
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243 1998
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
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: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR 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: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
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: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
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