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: rs1260580183
rs1260580183
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 CausalMutation CLINVAR Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. 23395213 2013
dbSNP: rs1260580183
rs1260580183
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 CausalMutation CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054 2012
dbSNP: rs1260580183
rs1260580183
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 CausalMutation CLINVAR One of a pair of sisters with the same mutations (M339V/S305L) lacking residual activity was severely retarded, whereas the older girl remains asymptomatic at 22 years of age, indicating that genotype does not necessarily predict GA1 phenotype. 21176883 2011
dbSNP: rs1260580183
rs1260580183
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 CausalMutation CLINVAR Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I. 9856558 1998
dbSNP: rs1260580183
rs1260580183
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 CausalMutation CLINVAR Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228 1996