rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
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
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
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
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
C
0.820
CausalMutation
CLINVAR
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
29665094
2018
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
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
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
0.820
GeneticVariation
BEFREE
We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) an d note that both the M405V and V400M variants are significantly more common in th e population of African ancestry compared to the general population.
27397597
2016
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
0.820
GeneticVariation
UNIPROT
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
24973495
2014
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.820
GeneticVariation
UNIPROT
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
24973495
2014
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
C
0.820
CausalMutation
CLINVAR
Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
23395213
2013
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
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
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
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
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
C
0.820
CausalMutation
CLINVAR
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
22728054
2012
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
C
0.820
CausalMutation
CLINVAR
Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
20629163
2010
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
0.820
GeneticVariation
UNIPROT
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
18775954
2008
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
C
0.820
CausalMutation
CLINVAR
Glutaric aciduria type I: outcome following detection by newborn screening.
18683078
2008
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.820
GeneticVariation
UNIPROT
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
18775954
2008
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
A
0.820
CausalMutation
CLINVAR
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
15505393
2004
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
A
0.820
GeneticVariation
CLINVAR
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
15505393
2004
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
C
0.820
CausalMutation
CLINVAR
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
15505393
2004
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
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
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
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
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
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
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
A
0.820
GeneticVariation
CLINVAR
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
10960496
2000
rs121434372
GCDH;SYCE2
Glutaric aciduria, type 1
A
0.820
CausalMutation
CLINVAR
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
10960496
2000
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
C
0.820
CausalMutation
CLINVAR
Mutation analysis in glutaric aciduria type I.
10699052
2000
rs121434373
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
C
0.820
CausalMutation
CLINVAR
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
10960496
2000