DLG4, discs large MAGUK scaffold protein 4, 1742

N. diseases: 91; N. variants: 54
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs314253
rs314253
Entrez Id: 1742
Gene Symbol: DLG4
DLG4
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs314253
rs314253
Entrez Id: 1742
Gene Symbol: DLG4
DLG4
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs369560930
rs369560930
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency. 26881790 2016
dbSNP: rs140629318
rs140629318
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. 24801231 2014
dbSNP: rs314253
rs314253
Entrez Id: 1742
Gene Symbol: DLG4
DLG4
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		C 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs314253
rs314253
Entrez Id: 1742
Gene Symbol: DLG4
DLG4
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		C 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs369560930
rs369560930
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect. 23430950 2012
dbSNP: rs545215807
rs545215807
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. 21932095 2012
dbSNP: rs545215807
rs545215807
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay. 22841441 2012
dbSNP: rs314253
rs314253
Entrez Id: 1742
Gene Symbol: DLG4
DLG4
CUI: C0201850
Disease:
Alkaline phosphatase measurement 		C 0.800 GeneticVariation GWASDB Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. 22001757 2011
dbSNP: rs314253
rs314253
Entrez Id: 1742
Gene Symbol: DLG4
DLG4
CUI: C0201850
Disease:
Alkaline phosphatase measurement 		C 0.800 GeneticVariation GWASCAT Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. 22001757 2011
dbSNP: rs369560930
rs369560930
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. 20060901 2010
dbSNP: rs369560930
rs369560930
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan. 18670371 2008
dbSNP: rs369560930
rs369560930
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 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
dbSNP: rs545215807
rs545215807
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 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
dbSNP: rs140629318
rs140629318
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency. 12213615 2002
dbSNP: rs140629318
rs140629318
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518 1999
dbSNP: rs140629318
rs140629318
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518 1999
dbSNP: rs369560930
rs369560930
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518 1999
dbSNP: rs369560930
rs369560930
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285 1999
dbSNP: rs545215807
rs545215807
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518 1999
dbSNP: rs545215807
rs545215807
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285 1999
dbSNP: rs140629318
rs140629318
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. 9546340 1998
dbSNP: rs369560930
rs369560930
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. 9546340 1998
dbSNP: rs545215807
rs545215807
Entrez Id: 37;1742
Gene Symbol: ACADVL;DLG4
ACADVL;DLG4
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. 9546340 1998