Gene: SYCE2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1277384196
rs1277384196
GCDH ; SYCE2
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
GCDH ; SYCE2
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
GCDH ; SYCE2
C 0.700 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
dbSNP: rs752127949
rs752127949
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 28302372

2017
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
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
GCDH ; SYCE2
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
dbSNP: rs754002357
rs754002357
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. 25762492

2015
dbSNP: rs754002357
rs754002357
GCDH ; SYCE2
TG 0.700 GeneticVariation CLINVAR Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. 25762492

2015
dbSNP: rs1282266790
rs1282266790
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs151201155
rs151201155
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs1555751379
rs1555751379
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs398123190
rs398123190
GCDH ; SYCE2
C 0.700 GeneticVariation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224

2014
dbSNP: rs745360675
rs745360675
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs764608975
rs764608975
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. 21176883

2011
dbSNP: rs1555751995
rs1555751995
GCDH ; SYCE2
G 0.700 GeneticVariation CLINVAR Use of guidelines improves the neurological outcome in glutaric aciduria type I. 21031586

2010
dbSNP: rs776082304
rs776082304
GCDH ; SYCE2
G 0.700 GeneticVariation CLINVAR Use of guidelines improves the neurological outcome in glutaric aciduria type I. 21031586

2010
dbSNP: rs776082304
rs776082304
GCDH ; SYCE2
A 0.700 GeneticVariation CLINVAR Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. 19433437

2009
dbSNP: rs1282266790
rs1282266790
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008
dbSNP: rs151201155
rs151201155
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008
dbSNP: rs1555751379
rs1555751379
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Glutaric aciduria type I: outcome following detection by newborn screening. 18683078

2008
dbSNP: rs764608975
rs764608975
GCDH ; SYCE2
0.700 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008
dbSNP: rs752127949
rs752127949
GCDH ; SYCE2
T 0.700 CausalMutation CLINVAR Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. 17622945

2007
dbSNP: rs199999619
rs199999619
GCDH ; SYCE2
C 0.700 CausalMutation CLINVAR Genetic and biochemical study in a patient with glutaric acidemia type I. 15318278

2004