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: rs147611168
rs147611168
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.710 CausalMutation CLINVAR Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. 19433437 2009
dbSNP: rs147611168
rs147611168
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.710 CausalMutation CLINVAR We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells. 18775954 2008
dbSNP: rs147611168
rs147611168
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.710 GeneticVariation BEFREE Five Lumbee individuals with GA-I had homozygous 1240G>A mutations in GCD. 16466958 2006
dbSNP: rs147611168
rs147611168
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.710 CausalMutation CLINVAR Five Lumbee individuals with GA-I had homozygous 1240G>A mutations in GCD. 16466958 2006
dbSNP: rs147611168
rs147611168
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.710 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: rs147611168
rs147611168
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.710 CausalMutation CLINVAR