Source: ALL

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 GeneticVariation BEFREE Mutations in LDLR lead to familial hypercholesterolemia, a common disease affecting 1 in 500 of the human population. 18574243

2008
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR Intronic mutations at splice junctions in the low-density lipoprotein receptor gene. 10441197

1999
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. 8882879

1996
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 AlteredExpression BEFREE We studied mRNA levels of the LDL-R and HMG CoA reductase genes in response to the HMG CoA reductase inhibitor lovastatin in a time- and dose-dependent fashion in cultured human skin fibroblasts and we devised an in vitro model to study the response to drug therapy in subjects with FH. 8800498

1996
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation LHGDN Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing. 18400033

2008
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation BEFREE Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism. 8872473

1996
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia. 9452095

1998
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia. 2799589

1989
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3. 19361455

2009
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 Biomarker BEFREE Construction and in vitro functional evaluation of a low-density lipoprotein receptor/transferrin fusion protein as a therapeutic tool for familial hypercholesterolemia. 10340553

1999
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Sequence diversity in genes of lipid metabolism. 11381031

2001
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 Biomarker BEFREE FH-MC-LDLR demonstrated a physiological response, with virtually no DiI-LDL internalization with excess sterols and an ~2-fold increase in DiI-LDL internalization by Lovastatin compared to FH-MC. 26307169

2015
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417

2011
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation BEFREE A total of 98 FH subjects and 66 healthy first- and second-degree relatives from 30 families with FH due to the French-Canadian > 10-kilobase deletion of the LDL receptor gene were studied. 8548413

1996
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation 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
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population. 17964958

2007
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations? 16627557

2006
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. 25545329

2015
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations. 9664576

1998
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy. 20045108

2010
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation CLINVAR The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. 23680767

2013
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 GeneticVariation BEFREE FH homozygotes with 2 nonfunctional LDL-R alleles had almost 2-fold higher Lp(a) levels than did FH heterozygotes. 10669652

2000
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium. 9212177

1997
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 CausalMutation CLINVAR Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. 16343504

2006
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.900 Biomarker BEFREE Familial hypercholesterolemia (FH) is a hereditary and usually asymptomatic condition characterized by elevated blood cholesterol and increased risk of premature cardiovascular disease. 30606641

2019