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: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653 2019
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653 2019
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 28302372 2017
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 28302372 2017
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121 2016
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Clinical and molecular investigation in Chinese patients with glutaric aciduria type I. 26656312 2016
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Clinical and molecular investigation in Chinese patients with glutaric aciduria type I. 26656312 2016
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121 2016
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. 25255367 2015
dbSNP: rs781477694
rs781477694
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: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. 21176883 2011
dbSNP: rs781477694
rs781477694
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: rs781477694
rs781477694
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: rs781477694
rs781477694
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: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. 9711871 1998
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I. 9856558 1998
dbSNP: rs781477694
rs781477694
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: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
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: rs781477694
rs781477694
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: rs781477694
rs781477694
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: rs781477694
rs781477694
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
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
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