Gene: SYCE2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Genetics, medicine, and the Plain people. 19630565

2009
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. 1951469

1991
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Glutaric acidemia type 1: outcomes before and after expanded newborn screening. 22728054

2012
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation BEFREE 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
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Mutation analysis in glutaric aciduria type I. 10699052

2000
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 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
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. 17478444

2007
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223

2017
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. 18926513

2008
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT 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
dbSNP: rs121434367
rs121434367
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 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: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
T 0.810 CausalMutation CLINVAR

dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998
dbSNP: rs121434368
rs121434368
GCDH ; SYCE2
0.810 GeneticVariation UNIPROT 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