rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
29665094
2018
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
28062662
2017
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.
28781846
2017
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.
26593172
2015
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
24973495
2014
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
24332224
2014
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Following accumulation of acylcarnitines C5DC and C4, of 3-hydroxyglutaric acid and isobutyrylglycine in body fluids, sequence analysis in the GCDH gene revealed homozygosity for a missense mutation in exon 6, c.482G>A , p.Arg161Gln , which had been reported in GA1 before.
20836999
2010
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
19433437
2009
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
18775954
2008
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
15505393
2004
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
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
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
10960496
2000
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
9600243
1998
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
A
0.800
CausalMutation
CLINVAR
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
9600243
1998
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
8900228
1996
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
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
rs777201305
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
Glutaric aciduria, type 1
0.800
GeneticVariation
UNIPROT
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
8541831
1995