Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease BEFREE Two new putative loci causing FH have been identified recently, the p.(Leu167del) mutation in APOE and new mutations in the signal transducing adaptor family member STAP1. 31809983 2020
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease BEFREE The aim of this work was to compared the effect of lipid lowering drugs among familial hypercholesterolemia (FH) subjects with a functional mutation in LDLR (LDLR FH) and FH with the p.(Leu167del) mutation in APOE. 30731287 2019
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease BEFREE Moreover, the ApoE risk allele E4 was proved significantly associated with FH cases when compared with controls (OR-2.24 (95%CI: 1.06-4.70); p=0.02). 30235358 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is caused by mutations in LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), PCSK9 (proprotein convertase subtilisin/kexin type 9), or APOE (apolipoprotein E) genes in approximately 80% of the cases. 29374275 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease BEFREE Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France. 26802169 2016
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease BEFREE Our objective was to determine the frequency of p.Leu167del mutation in APOE gene in subjects with autosomal dominant hypercholesterolemia (ADH) in whom LDLR, APOB, and PCSK9 mutations had been excluded and to identify the mechanisms by which this mutant apo E causes hypercholesterolemia. 27014949 2016
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease UNIPROT Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France. 26802169 2016
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 Biomarker disease BEFREE Metaanalysis of the weighted 6-SNP score, on the basis of polymorphisms in CELSR2 (cadherin, EGF LAG 7-pass G-type receptor 2), APOB (apolipoprotein B), ABCG5/8 [ATP-binding cassette, sub-family G (WHITE), member 5/8], LDLR (low density lipoprotein receptor), and APOE (apolipoprotein E) loci, in the independent FH/M- cohorts showed a consistently higher score in comparison to the WHII population (P < 2.2 × 10(-16)). 25414277 2015
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease UNIPROT APOE p.Leu167del mutation in familial hypercholesterolemia. 24267230 2013
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease BEFREE 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
0.600 GeneticVariation disease BEFREE A total of 386 patients with hyperlipidemia, including 166 with familial hypercholesterolemia (FH), with good adherence to rosuvastatin 10 mg daily, were genotyped for the APOE e2/e3/e4 and APOA5 -1131T>C polymorphisms. 23312054 2013
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease UNIPROT 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
0.600 Biomarker disease BEFREE Since the discovery of the low-density lipoprotein receptor (LDLR) and its association with familial hypercholesterolemia in the early 1980s, a family of structurally related proteins has been discovered that has apolipoprotein E as a common ligand, and the broad functions of its members have been described. 21720686 2011
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 Biomarker disease CTD_human Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia. 16030523 2005
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 GeneticVariation disease BEFREE Apolipoprotein E genotype is not associated with cardiovascular disease in heterozygous subjects with familial hypercholesterolemia. 12796755 2003
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 Biomarker disease BEFREE Moreover, the strong association suggests that apoE4 carries an additional disadvantage for FH children. 12646733 2003
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 AlteredExpression disease BEFREE We did not find any effect of Apo E genotypes on lipid levels in the NL or FH group. 14615272 2003
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 AlteredExpression disease BEFREE Effect of apolipoprotein E genotype on lipid levels and response to diet in familial hypercholesterolemia. 10812582 2000
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 Biomarker disease BEFREE In conclusion, the analysis presented here supports the concept that the apo E gene has an important role in the regulation of plasma lipid and lipoproteins in FH. 8722744 1996
Entrez Id: 348
Gene Symbol: APOE
APOE
0.600 AlteredExpression disease BEFREE Both WHHL rabbits and FH patients have a four- to sevenfold increase in plasma levels of apolipoprotein E (apo E). 3196225 1989