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 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 		0.900 GeneticVariation disease CLINVAR Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. 30586733 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia. 29576406 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting. 30293936 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Functional analysis of six uncharacterised mutations in LDLR gene. 31689621 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina. 28502510 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease. 27919364 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic. 28379029 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Molecular genetics of familial hypercholesterolemia in Israel-revisited. 28104544 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 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 		0.900 GeneticVariation 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 		0.900 CausalMutation disease CLINVAR Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia. 28159968 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population. 29213121 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Homozygous familial hypercholesterolemia: Summarized case reports. 28126585 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR The genetic spectrum of familial hypercholesterolemia in the central south region of China. 28235710 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward. 27578104 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations. 27578127 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia. 28458923 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries. 28391882 2017
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 GeneticVariation disease CLINVAR Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry. 25911074 2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation 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 		0.900 CausalMutation disease CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735 2016