Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434373
rs121434373
GCDH
0.820 GeneticVariation BEFREE To contribute to a better molecular understanding of GA-I we undertook a detailed molecular study on two GCDH disease-related variants, GCDH-p.Arg227Pro and GCDH-p.Val400Met. 31491587

2020
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases. 30570710

2019
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Newborn screening: A disease-changing intervention for glutaric aciduria type 1. 29665094

2018
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation BEFREE We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434373
rs121434373
GCDH
0.820 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis. 23395213

2013
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. 21912879

2012
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. 21912879

2012
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054

2012
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders. 20629163

2010
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Glutaric aciduria type I: outcome following detection by newborn screening. 18683078

2008
dbSNP: rs121434373
rs121434373
GCDH
0.820 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 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: rs121434373
rs121434373
GCDH
0.820 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: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype. 12872844

2003
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
A 0.820 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052

2000
dbSNP: rs121434373
rs121434373
GCDH
C 0.820 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000