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: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.820 GeneticVariation BEFREE To contribute to a better molecular understanding of GA-I we undertook a detailed molecular study on two GCDH disease-related variants, GCDH-p.Arg227Pro and GCDH-p.Val400Met. 31491587 2020
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases. 30570710 2019
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Newborn screening: A disease-changing intervention for glutaric aciduria type 1. 29665094 2018
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.820 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495 2014
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. 23395213 2013
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054 2012
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders. 20629163 2010
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Glutaric aciduria type I: outcome following detection by newborn screening. 18683078 2008
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.820 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954 2008
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393 2004
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.820 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: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype. 12872844 2003
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052 2000
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496 2000
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. 11073722 2000
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis. 11015709 2000
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. 10066389 1999
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase. 10384381 1999
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.820 GeneticVariation BEFREE Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I. 9881681 1998
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.820 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: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. 9266361 1997
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 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: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.820 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: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.820 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228 1996
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.820 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831 1995