Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation. 7634440 1995
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is associated with an increased risk of premature coronary heart disease. 20964105 2010
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition causing a high risk of coronary heart disease. 22469073 2012
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. 25962062 2015
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) can lead to premature coronary heart disease. 31248367 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 Biomarker disease BEFREE Familial hypercholesterolemia with early coronary atherosclerotic heart disease: A case report. 31316595 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE A 3.5 y-old girl carrying a severe mutation of the LDL-receptor gene known as "FH Pavia", affected by homozygous familial hypercholesterolaemia (FH), and at high risk of developing coronary artery atherosclerosis was treated with selective dextran sulphate cellulose (DSC) column low-density lipoprotein apheresis (LDL-a). 11440106 2001
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 Biomarker disease BEFREE Although genes coding for PPARs (alpha, gamma), CD36, LDLR showed correlation with the severity of coronary atherosclerosis , blood cellular LXRalpha genomic profile showed conspicuous negative correlation with the severity of coronary atherosclerosis in subjects with or without hypercholesterolemia. 16252156 2006
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE An oxidized low-density lipoprotein receptor gene variant is inversely associated with the severity of coronary artery disease. 15562935 2004
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 Biomarker disease BEFREE ApoE⁻/⁻ and low density lipoprotein receptor (LDLr)⁻/⁻ mice have been extensively used for studies of coronary atherosclerosis. 21398511 2011
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Association between PCSK9 and LDLR gene polymorphisms with coronary heart disease: case-control study and meta-analysis. 23380588 2013
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 Biomarker disease BEFREE Atherosclerosis-prone apolipoprotein E (apoE) or low-density lipoprotein receptor (LDL-R) knockout (KO) mice are generally resistant to developing coronary atherosclerosis (CA) and ischemic heart disease (IHD). 27373983 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 AlteredExpression disease BEFREE CETP (cholesteryl ester transfer protein) and HL (hepatic lipase) play a role in the metabolism of plasma lipoproteins, but the effects of CETP and LIPC (gene encoding HL) genotypes on coronary atherosclerosis may be dependent on LDL (low-density lipoprotein)-receptor activity. 16822236 2006
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25-49 years) versus middle-aged (50-64 years) men. 10208490 1999
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 Biomarker disease BEFREE Familial hypercholesterolaemia is a co-dominant inherited disorder of lipoprotein metabolism, in which defects in the gene for the low-density-lipoprotein (LDL) receptor result in a twofold increase in the plasma concentration of cholesterol and moderate-to-severe premature coronary heart disease. 17607901 1995
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Familial Hypercholesterolemia (FH) is a common genetic disorder caused most often by mutations in the Low Density Lipoprotein Receptor gene (LDLr) leading to high blood cholesterol levels, and ultimately to development of premature coronary heart disease. 30413722 2018