Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 GeneticVariation BEFREE Glutaric Aciduria Type I (GA-I), is an autosomal recessive neurometabolic disease caused by mutations in the GCDH gene that encodes for glutaryl-CoA dehydrogenase (GCDH), a flavoprotein involved in the metabolism of tryptophan, lysine and hydroxylysine. 31491587

2020

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 Biomarker CLINGEN 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

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 GeneticVariation BEFREE Glutaric Aciduria type I (GA-I) is caused by mutations in the GCDH gene. 30686684

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 GeneticVariation BEFREE Glutaric acidemia type I (GA I) is a neurometabolic disorder of lysine (Lys) catabolism caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. 31121257

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 Biomarker BEFREE Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). 31062211

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 CausalMutation CLINVAR Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases. 30570710

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 CausalMutation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 AlteredExpression BEFREE Glutaric acidemia type I (GA-I) is a neurometabolic disease caused by deficient activity of glutaryl-CoA dehydrogenase (GCDH) that results in accumulation of metabolites derived from lysine (Lys), hydroxylysine, and tryptophan catabolism. 29779173

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 Biomarker CLINGEN Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). 31062211

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 Biomarker BEFREE Glutaric acidemia type I (GA-1) is an inborn error of metabolism due to deficiency of glutaryl-CoA dehydrogenase (GCDH), which catalyzes the conversion of glutaryl-CoA to crotonyl-CoA. 30203563

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 AlteredExpression BEFREE Glutaric acidemia type I (GA I) is an inherited neurometabolic disease caused by deficient activity of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH), resulting in predominant accumulation of glutaric and 3-hydroxyglutaric acids derived from lysine (Lys), hydroxylysine, and tryptophan catabolism. 31125684

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 CausalMutation CLINVAR Glutaric Acidemia Type 1: A Case of Infantile Stroke. 28411331

2018

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 GeneticVariation BEFREE We report a case of prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous GCDH gene mutation at IVS 3 + 1 G > A and c. 1240 G > A mutations, which provide better genetic counselling for the couples. 29458885

2018

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 CausalMutation CLINVAR Newborn screening: A disease-changing intervention for glutaric aciduria type 1. 29665094

2018

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 GeneticVariation CLINVAR Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene. 27476540

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 Biomarker BEFREE The clinical data and glutaryl-CoA dehydrogenase (GCDH) genetic test results of two cases of late-onset GA-I in Uighur were collected and analyzed, and reviewed with relevant literature. 28352331

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 GeneticVariation CLINVAR Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. 28062662

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 CausalMutation CLINVAR Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I. 28389991

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 GeneticVariation BEFREE The neurometabolic disorder glutaric aciduria type 1 (GA1) is caused by mutations in the GCDH gene encoding the mitochondrial matrix protein glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes. 28062662

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 Biomarker BEFREE Glutaric acidemia type I (GA-I) is an inherited neurometabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH) and characterized by increased levels of glutaric, 3-OH-glutaric, and glutaconic acids in the brain parenchyma. 28762469

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 CausalMutation CLINVAR Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases. 28352331

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 AlteredExpression BEFREE Interestingly, GCDH was found to be significantly expressed in different other organs (e.g. kidney, gut) in adult rats probably explaining the evolving phenotype in GA-I patients. 27984186

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 GeneticVariation BEFREE Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). 28389991

2017

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
1.000 Biomarker MGD Glutaric aciduria type I (GA-I) is a rare organic aciduria caused by the autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase (GCDH). 28545977

2017