Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223

2017
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449

2015
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 GeneticVariation CLINVAR Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449

2015
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054

2012
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. 21176883

2011
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 GeneticVariation CLINVAR Use of guidelines improves the neurological outcome in glutaric aciduria type I. 21031586

2010
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Genetics, medicine, and the Plain people. 19630565

2009
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Glutaric aciduria type I: outcome following detection by newborn screening. 18683078

2008
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. 18926513

2008
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. 17478444

2007
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Genetic and biochemical study in a patient with glutaric acidemia type I. 15318278

2004
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families. 12210585

2002
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. 11058907

2000
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 GeneticVariation CLINVAR Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. 11073722

2000
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052

2000
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR 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
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.100 CausalMutation CLINVAR Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. 1951469

1991