Gene: SYCE2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 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: rs121434372
rs121434372
GCDH ; SYCE2
0.820 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: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation BEFREE Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I. 9881681

1998
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 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: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation BEFREE We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995
dbSNP: rs121434372
rs121434372
GCDH ; SYCE2
0.820 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008
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
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
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
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
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
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