Gene: APOE ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 Biomarker disease GENOMICS_ENGLAND Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. 22949395 2013
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 Biomarker disease GENOMICS_ENGLAND APOE p.Leu167del mutation in familial hypercholesterolemia. 24267230 2013
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease UNIPROT APOE R136S and p.Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively. 22481068 2012
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease UNIPROT Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA. 8287539 1994
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease UNIPROT Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu). 7635945 1995
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease UNIPROT Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). 2101409 1991
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease UNIPROT Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745 1991
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease UNIPROT Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245). 2738044 1989
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease UNIPROT Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 1361196 1992
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease UNIPROT Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127. 2556398 1989
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 SusceptibilityMutation disease ORPHANET Cerebrovascular atherosclerosis in type III hyperlipidemia is modulated by variation in the apolipoprotein A5 gene. 21463987 2011
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 SusceptibilityMutation disease ORPHANET Dysbetalipoproteinaemia: a mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E. 24405372 2014
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 Biomarker disease CTD_human The great majority of patients with type III hyperlipidemia (type III HLP) are homozygous for the epsilon2 allele of the APOE gene. 16143024 2005
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 Biomarker disease CTD_human Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2. 9649566 1998
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 Biomarker disease CTD_human Dysbetalipoproteinaemia--clinical and pathophysiological features. 12506591 2002
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 CausalMutation disease CLINVAR
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease BEFREE The molecular defect in type III hyperlipoproteinemia and dysbetalipoproteinemia is the presence of a mutant form of apo E, usually apo E2, that is defective in binding to both apo B,E(LDL) and apo E receptors. 3000263 1985
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease BEFREE Expression of type III hyperlipoproteinemia in patients homozygous for apolipoprotein E-2 is modulated by lipoprotein lipase and postprandial hyperinsulinemia. 9587070 1998
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease BEFREE Identification of an apolipoprotein(e) variant associated with type III hyperlipoproteinaemia in an indigenous Australian. 11270841 2001
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 Biomarker disease BEFREE A phenocopy of type III dysbetalipoproteinemia occurring in a candidate family for a putative apo E receptor defect. 1648930 1991
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease BEFREE Identification of a new apolipoprotein E variant (E2 Arg142-->Leu) in type III hyperlipidemia. 7772063 1995
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease BEFREE Familial dysbetalipoproteinemia (FD) or Type III hyperlipoproteinemia is closely associated with the ε2ε2 genotype of the common APOE polymorphism although not all ε2 homozygotes develop FD indicating that additional factors play a role including insulin resistance (IR). 29928902 2018
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease BEFREE Variable heparan sulfate proteoglycan binding of apolipoprotein E variants may modulate the expression of type III hyperlipoproteinemia. 8175773 1994
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.800 GeneticVariation disease BEFREE We found an unexplained, persistent discrepancy between the outcomes of two apolipoprotein-E (apo-E) genotyping methods for a patient with features of familial dysbetalipoproteinaemia (FD). 15989726 2005