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: rs121434371
rs121434371
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: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. 20732827 2011
dbSNP: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders. 20629163 2010
dbSNP: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. 19433437 2009
dbSNP: rs121434371
rs121434371
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: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. 17188916 2007
dbSNP: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. 16641220 2006
dbSNP: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR [In utero macrocephaly as clinical manifestation of glutaric aciduria type I. Report of a novel mutation]. 15573311 2005
dbSNP: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393 2004
dbSNP: rs121434371
rs121434371
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: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South African male child: case report. 12199454 2001
dbSNP: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496 2000
dbSNP: rs121434371
rs121434371
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: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. 9711871 1998
dbSNP: rs121434371
rs121434371
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: rs121434371
rs121434371
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: rs121434371
rs121434371
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: rs121434371
rs121434371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228 1996
dbSNP: rs121434371
rs121434371
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