Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation. 29233637 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia. 28964736 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina. 28502510 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study. 28965616 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals. 28145427 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries. 28391882 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia. 28169869 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR The genetic spectrum of familial hypercholesterolemia in the central south region of China. 28235710 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR Homozygous familial hypercholesterolemia: Summarized case reports. 28126585 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR Molecular genetics of familial hypercholesterolemia in Israel-revisited. 28104544 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic. 28379029 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study. 28965616 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy. 27247956 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically. 27765764 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations. 27816806 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations. 27680772 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 CausalMutation disease CLINVAR The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. 26892515 2016
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.200 CausalMutation disease CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.200 GeneticVariation disease CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735 2016