rs222836
×
Entrez Id:
1856
Gene Symbol:
DVL2
DVL2
Adenomatous Polyposis Coli
0.010
GeneticVariation
BEFREE
This study aims to determine the contribution of polymorphisms in the genes of the β-catenin destruction complex to develop CRC, specifically adenomatous polyposis coli (APC) (rs11954856 G>T and rs459552 A>T), axis inhibition protein 1 (AXIN1) (rs9921222 C>T and rs1805105 C>T), AXIN2 (rs7224837 A>G), and dishevelled 2 (DVL2) (2074222 G>A and rs222836 C>T).
31723073
2019
rs2074222
×
Entrez Id:
1856
Gene Symbol:
DVL2
DVL2
Colorectal Carcinoma
0.010
GeneticVariation
BEFREE
The haplotypes G-T in APC (rs11954856-rs459552) and A-C in DVL2 (rs2074222 -rs222836) were associated with decreased risk of CRC , while the G-T haplotype in the DVL2 gene was associated with increased CRC risk.
31723073
2019
rs222836
×
Entrez Id:
1856
Gene Symbol:
DVL2
DVL2
Colorectal Carcinoma
0.010
GeneticVariation
BEFREE
The haplotypes G-T in APC (rs11954856-rs459552) and A-C in DVL2 (rs2074222-rs222836 ) were associated with decreased risk of CRC , while the G-T haplotype in the DVL2 gene was associated with increased CRC risk.
31723073
2019
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
GeneticVariation
CLINVAR
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
7769092
1995
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
4022672
1985
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
17999356
2007
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
10077518
1999
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
GeneticVariation
CLINVAR
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
17999356
2007
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.
17374501
2007
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
7479827
1995
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
GeneticVariation
CLINVAR
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
19327992
2009
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.
8554073
1996
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
GeneticVariation
CLINVAR
Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.
8554073
1996
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
GeneticVariation
CLINVAR
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
4022672
1985
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
GeneticVariation
CLINVAR
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
7479827
1995
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
19327992
2009
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.
27943070
2017
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
GeneticVariation
CLINVAR
Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.
17374501
2007
rs118204014
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
7769092
1995
rs1057520507
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.700
CausalMutation
CLINVAR
A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.
27029698
2016
rs1057520507
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.700
CausalMutation
CLINVAR
Next generation sequencing as a follow-up test in an expanded newborn screening programme.
29111448
2018
rs1057520507
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
T
0.700
CausalMutation
CLINVAR
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
10431122
1999
rs148584617
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
A
0.700
GeneticVariation
CLINVAR
rs148584617
ACADVL;DVL2;MIR324
Very long chain acyl-CoA dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR