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: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
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
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
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
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653 2019
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653 2019
dbSNP: rs199999619
rs199999619
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.700 CausalMutation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653 2019
dbSNP: rs398123190
rs398123190
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.700 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653 2019
dbSNP: rs761765983
rs761765983
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653 2019
dbSNP: rs761765983
rs761765983
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 CausalMutation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653 2019
dbSNP: rs121434373
rs121434373
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.820 CausalMutation CLINVAR Newborn screening: A disease-changing intervention for glutaric aciduria type 1. 29665094 2018
dbSNP: rs149120354
rs149120354
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.800 CausalMutation CLINVAR Glutaric Acidemia Type 1: A Case of Infantile Stroke. 28411331 2018
dbSNP: rs777201305
rs777201305
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Newborn screening: A disease-changing intervention for glutaric aciduria type 1. 29665094 2018
dbSNP: rs121434367
rs121434367
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.810 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223 2017
dbSNP: rs121434369
rs121434369
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.810 CausalMutation CLINVAR We conclude that among selected mutations, R402W is the most common mutation found among Indian GA-I patients. 28794906 2017
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 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
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223 2017
dbSNP: rs142967670
rs142967670
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223 2017
dbSNP: rs777201305
rs777201305
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
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
dbSNP: rs777201305
rs777201305
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
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
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 GeneticVariation CLINVAR Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 28302372 2017
dbSNP: rs781477694
rs781477694
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.800 CausalMutation CLINVAR Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 28302372 2017
dbSNP: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223 2017
dbSNP: rs786204626
rs786204626
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.800 CausalMutation CLINVAR Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases. 28352331 2017
dbSNP: rs1273164833
rs1273164833
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. 28062662 2017
dbSNP: rs1555749853
rs1555749853
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		C 0.700 GeneticVariation CLINVAR Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. 28062662 2017
dbSNP: rs1555750542
rs1555750542
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		ACTCG 0.700 GeneticVariation CLINVAR Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene. 27476540 2017