Gene: LDLR ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Mutation detection in Chinese patients with familial hypercholesterolemia. 28028493 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands. 9544850 1998
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia. 7649546 1995
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. 18325082 2008
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality. 21925660 2011
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195 1997
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Functional characterization of splicing and ligand-binding domain variants in the LDL receptor. 21990180 2012
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. 3924410 1985
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. 16389549 2006
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients. 19073363 2009
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR The solution structure of human epidermal growth factor. 3495735 1987
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses. 19208450 2009
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR [Relationship between changes in activities of low density lipoprotein receptor and gene mutation in familial hypercholesterolemia]. 12485531 2002
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study. 24956927 2014
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia. 15890894 2005
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. 11668627 2001
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. 9974426 1999
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia. 10924730 2000
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Inferring primary tumor sites from mutation spectra: a meta-analysis of histology-specific aberrations in cancer-derived cell lines. 24163242 2014
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Molecular modeling of D151Y and M391T mutations in the LDL receptor. 18929537 2008
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations. 15200491 2004
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia. 7635461 1995
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. 22353362 2012
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia. 11737238 2001
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. 25647241 2015