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: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
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: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases. 28352331 2017
dbSNP: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 GeneticVariation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224 2014
dbSNP: rs786204626
rs786204626
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: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
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: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 GeneticVariation CLINVAR Molecular determination of glutaric aciduria type I in individuals from southwest Iran. 25204480 2014
dbSNP: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
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: rs786204626
rs786204626
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: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 GeneticVariation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393 2004
dbSNP: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
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: rs786204626
rs786204626
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: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition. 10649503 2000
dbSNP: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. 11073722 2000
dbSNP: rs786204626
rs786204626
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: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. 9711871 1998
dbSNP: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
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: rs786204626
rs786204626
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: rs786204626
rs786204626
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: rs786204626
rs786204626
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