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: rs758503371
rs758503371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 GeneticVariation CLINVAR Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review. 27351573 2016
dbSNP: rs758503371
rs758503371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 GeneticVariation CLINVAR Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. 25762492 2015
dbSNP: rs758503371
rs758503371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 GeneticVariation CLINVAR Molecular determination of glutaric aciduria type I in individuals from southwest Iran. 25204480 2014
dbSNP: rs758503371
rs758503371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 GeneticVariation CLINVAR Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I. 19433275 2009
dbSNP: rs758503371
rs758503371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496 2000
dbSNP: rs758503371
rs758503371
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 CausalMutation CLINVAR