LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs662799 (p=0.0014), LDLR rs1433099 (p=2.1 × 10(-7)), and APOE rs7412 (p=6.1 × 10(-13)). 23050023 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE CAD was present in 33% and plaques in the carotid arteries in 82% of the patients with LDLR defects. 9360938 1996
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is associated with an increased risk of premature coronary heart disease. 20964105 2010
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition causing a high risk of coronary heart disease. 22469073 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE LDLR rs6511720 is associated with AAA.This finding is consistent with established effects of this variant on coronary artery disease. 24046328 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE LDL receptor, adiponectin, and endocannabinoid receptor-1 genes are independently associated with CAD and T2DM. 25470794 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. 25962062 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE Familial hypercholesterolemia (FH) is a dominantly inherited disorder characterized by markedly elevated plasma low-density lipoprotein cholesterol and premature coronary heart disease. 26275368 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE Familial hypercholesterolemia (FH) is reportedly associated with the development of coronary artery disease (CAD), especially acute coronary syndrome (ACS). 30968218 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an inherited disease of lipoprotein metabolism caused by a defect in the LDL receptor (LDLR) leading to severe hypercholesterolemia, and associated with an increased risk of coronary heart disease and myocardial infarction. 31061510 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) can lead to premature coronary heart disease. 31248367 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism that mainly occurs due to mutations in the low-density lipoprotein receptor gene and is characterized by increased levels of low-density lipoprotein cholesterol, leading to accelerated atherogenesis and premature coronary heart disease. 31633867 2020
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease BEFREE Familial hypercholesterolemia (FH) is characterized by high prevalence of CAD and major cardiovascular events (MACEs). 31711505 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease. 2876626 1986
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Adjustment for LDL-C levels by logistic regression or Mendelian Randomisation models abolished the significant association between rs2228671 with CAD completely, indicating a functional link between the genetic variant at the LDLR gene locus, change in LDL-C and risk of CAD. 18714375 2008
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease LHGDN Adjustment for LDL-C levels by logistic regression or Mendelian Randomisation models abolished the significant association between rs2228671 with CAD completely, indicating a functional link between the genetic variant at the LDLR gene locus, change in LDL-C and risk of CAD. 18714375 2008
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE An oxidized low-density lipoprotein receptor gene variant is inversely associated with the severity of coronary artery disease. 15562935 2004
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Association between PCSK9 and LDLR gene polymorphisms with coronary heart disease: case-control study and meta-analysis. 23380588 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B). 12730697 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Background and Purpose- Familial hypercholesterolemia (FH) is a common autosomal dominant disease leading to increased level of serum LDL (low-density lipoprotein) cholesterol and risk of coronary heart disease. 30580708 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia. 9179542 1997
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Effects of Ava II and Hinc II polymorphisms at the LDL receptor gene on serum lipid levels of Brazilian individuals with high risk for coronary heart disease. 10633291 1999
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Except for certain polymorphisms in lipid genes (i.e., apolipoprotein E [apo E]) or rare genetic variations (i.e., LDL receptor), which have a causal effect on both the intermediate (LDL-cholesterol level in plasma) and the clinical phenotypes (CAD/MI), the role of most gene polymorphisms is controversial or unknown. 11258599 2000
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Familial hypercholesterolaemia (FH) is caused by mutations in the low-density lipoprotein (LDL)-receptor gene that result in impaired clearance of plasma LDL and increased risk of coronary heart disease. 10563483 1999