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: rs1277384196
rs1277384196
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.010 GeneticVariation BEFREE The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene. 15248096 2004
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: 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
dbSNP: rs752127949
rs752127949
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 CausalMutation CLINVAR Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 28302372 2017
dbSNP: rs886043840
rs886043840
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I. 28389991 2017
dbSNP: rs886043840
rs886043840
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 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: rs886043840
rs886043840
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I. 28389991 2017
dbSNP: rs1057517410
rs1057517410
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		G 0.700 GeneticVariation CLINVAR Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 27629047 2016
dbSNP: rs748275416
rs748275416
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 CausalMutation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121 2016
dbSNP: rs758137643
rs758137643
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 GeneticVariation CLINVAR Clinical and molecular investigation in Chinese patients with glutaric aciduria type I. 26656312 2016
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: rs761765983
rs761765983
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 CausalMutation CLINVAR Clinical and molecular investigation in Chinese patients with glutaric aciduria type I. 26656312 2016
dbSNP: rs761765983
rs761765983
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Clinical and molecular investigation in Chinese patients with glutaric aciduria type I. 26656312 2016
dbSNP: rs794726972
rs794726972
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 GeneticVariation CLINVAR The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. 27397597 2016
dbSNP: rs886043840
rs886043840
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 CausalMutation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121 2016
dbSNP: rs886043840
rs886043840
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		T 0.700 GeneticVariation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121 2016
dbSNP: rs1057516521
rs1057516521
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. 25255367 2015
dbSNP: rs1273164833
rs1273164833
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		A 0.700 GeneticVariation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
dbSNP: rs199999619
rs199999619
Entrez Id: 2639;256126
Gene Symbol: GCDH;SYCE2
GCDH;SYCE2
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		G 0.700 GeneticVariation CLINVAR Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449 2015
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 Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449 2015