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: rs755586631
rs755586631
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. 25255367 2015
dbSNP: rs755586631
rs755586631
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. 21176883 2011
dbSNP: rs755586631
rs755586631
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. 19433437 2009
dbSNP: rs755586631
rs755586631
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Glutaric aciduria type I: outcome following detection by newborn screening. 18683078 2008
dbSNP: rs755586631
rs755586631
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Glutaric acidemia type I: a neurosurgical perspective. Report of two cases. 18459892 2007
dbSNP: rs755586631
rs755586631
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052 2000
dbSNP: rs755586631
rs755586631
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052 2000