Gene: SYCE2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease 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 		0.100 GeneticVariation disease 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 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054 2012
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 CausalMutation disease CLINVAR Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. 21176883 2011
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 GeneticVariation disease CLINVAR Use of guidelines improves the neurological outcome in glutaric aciduria type I. 21031586 2010
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 CausalMutation disease CLINVAR Genetics, medicine, and the Plain people. 19630565 2009
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 CausalMutation disease CLINVAR Glutaric aciduria type I: outcome following detection by newborn screening. 18683078 2008
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. 17478444 2007
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 CausalMutation disease CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393 2004
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 CausalMutation disease CLINVAR Genetic and biochemical study in a patient with glutaric acidemia type I. 15318278 2004
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. 11058907 2000
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 GeneticVariation disease 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 		0.100 CausalMutation disease CLINVAR Mutation analysis in glutaric aciduria type I. 10699052 2000
Entrez Id: 256126
Gene Symbol: SYCE2
SYCE2 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. 1951469 1991