Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 AlteredExpression disease BEFREE This variation in level of the LDL receptor ligand appears to have predictive value, and may have an etiologic role, in coronary artery disease. 3414686 1988
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Homozygotes and compound heterozygotes (i.e., those who carry two different FH genes) are very rare (one in 1,000,000) have severe hypercholesterolemia with xanthomas, and develop coronary heart disease early in life. 2563220 1989
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE This result suggests the possibility that genetic variation at the LDL receptor locus or a closely linked locus on chromosome 19 may be responsible for metabolic alterations in ALP pattern B that account for a substantial proportion of the familial predisposition to coronary artery disease in the general population. 1731344 1992
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Patients with two abnormal LDL receptor genes (homozygous deficient patients) have severe hypercholesterolemia and life-threatening coronary artery disease in childhood. 1391038 1992
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia. 8098448 1993
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 Biomarker disease BEFREE Persons with hFH generally manifest elevations of low density lipoprotein (LDL) cholesterol throughout their lives and have a markedly increased risk of death from coronary artery disease. 8105671 1993
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE The presence of mutant apo B-100 in low-density lipoproteins (LDL) markedly reduces their affinity for the LDL receptor, leading to hypercholesterolaemia and increased proneness to coronary artery disease. 8141833 1993
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 AlteredExpression disease BEFREE The relation of LDL receptor activity to lipoprotein(a) plasma concentration in patients without coronary artery disease. 8187228 1994
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 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 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 Relationships of abdominal obesity and hyperinsulinemia to angiographically assessed coronary artery disease in men with known mutations in the LDL receptor gene. 9521335 1998
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH), a monogenic disease known to be caused by low-density lipoprotein receptor (LDLR) gene mutations, results in the development of premature atherosclerosis and coronary artery disease in affected individuals. 9889019 1998
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Mutations in the LDL receptor (LDLR) or the apolipoprotein B-100 genes causing familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB), two of the most frequent inherited diseases, are the underlying genetic defects in a small proportion of patients suffering from premature atherosclerotic heart disease. 9727746 1998
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE Relative contribution of low-density lipoprotein receptor and lipoprotein lipase gene mutations to angiographically assessed coronary artery disease among French Canadians. 9708657 1998
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 FH is caused by mutations in the low-density lipoprotein receptor (LDLR) gene and is characterized by raised plasma LDL-cholesterol, tendon xanthomas, and premature coronary heart disease. 10208489 1999
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 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 GeneticVariation disease BEFREE Pvu II intron 15 polymorphism at the LDL receptor gene is associated with differences in serum lipid concentrations in subjects with low and high risk for coronary artery disease from Brazil. 10699424 2000
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 GeneticVariation disease BEFREE The aim of this study was to detect mutations in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in patients of Southeast Asian origin with clinically diagnosed familial hypercholesterolemia (FH) and to relate these findings with the observed lower incidence of coronary heart disease in this part of the world. 11005141 2000
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 GeneticVariation disease BEFREE The C766T low-density lipoprotein receptor related protein polymorphism and coronary artery disease, plasma lipoproteins, and longevity in the Czech population. 11357934 2001
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 Biomarker disease BEFREE This disease, which is due to mutation in the low density lipoprotein (LDL) receptor gene and results in deficiency of the LDL receptor, is associated with hypercholesterolemia and premature development of coronary heart disease. 12119548 2002
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.400 Biomarker disease BEFREE The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis--novel genomic variants and functional consequences. 12402342 2002