Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia. 29576406

2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Functional analysis of six uncharacterised mutations in LDLR gene. 31689621

2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina. 28502510

2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease. 27919364

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic. 28379029

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Molecular genetics of familial hypercholesterolemia in Israel-revisited. 28104544

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. 27824480

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population. 29213121

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR Homozygous familial hypercholesterolemia: Summarized case reports. 28126585

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR The genetic spectrum of familial hypercholesterolemia in the central south region of China. 28235710

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolemia in Han Chinese. 27206935

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations. 27578127

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia. 28458923

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries. 28391882

2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Mutation detection in Chinese patients with familial hypercholesterolemia. 28028493

2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735

2016