Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 GeneticVariation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 GeneticVariation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 GeneticVariation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 GeneticVariation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 Biomarker 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 GeneticVariation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 Biomarker 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 Biomarker CTD_human Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia. 16030523

2005

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 GeneticVariation BEFREE In this study we examined the influence of Apo-E genotype on lipid parameters and the incidence of CAD in 93 Greek patients with familial hypercholesterolaemia. 16362800

2005

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 Biomarker BEFREE Moreover, the strong association suggests that apoE4 carries an additional disadvantage for FH children. 12646733

2003

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 AlteredExpression 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 GeneticVariation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 AlteredExpression 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 GeneticVariation BEFREE APO E genotype and familial hypercholesterolaemia. 9293308

1997

Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 Biomarker 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.400 GeneticVariation BEFREE Effect of apolipoprotein E polymorphism and XbaI polymorphism of apolipoprotein B on response to lovastatin treatment in familial and non-familial hypercholesterolaemia. 1940775

1991