LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Familial hypercholesterolemia - homozygous ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306 2010
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. 7649549 1995
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Molecular genetics of familial hypercholesterolemia in Israel. 8882879 1996
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia. 11462246 2001
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease BEFREE A previous study of the low density lipoprotein (LDL) receptor gene haplotype distribution in 12 unrelated South African patients with homozygous familial hypercholesterolaemia indicated the existence of several different receptor gene mutations in this patient pool. 3198114 1988
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. 22353362 2012
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease BEFREE The present authors investigated the influence of LDL receptor mutation type on the clinical phenotype in 31 patients with heterozygous FH caused by the receptor-negative, Trp23-stop mutation and in 31 patients heterozygous for the receptor defective Trp66-Gly mutation. 12121347 2002
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. 16159606 2005
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		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
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 Biomarker disease BEFREE Novel LDL receptor (LDLR) independent drugs have been recently approved or are in development for the treatment of HoFH, including lomitapide (Juxtapid®). 30945578 2019
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease CLINVAR Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically. 27765764 2016
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease BEFREE We have previously reported premature, extensive aortic calcifications in patients with homozygous familial hypercholesterolemia (hmzFH) due to mutations in the low-density lipoprotein receptor gene (LDL-R). 19081415 2009
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease CLINVAR Array-based resequencing for mutations causing familial hypercholesterolemia. 21376320 2011
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849 2009
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease CLINVAR Genetic analysis of familial hypercholesterolaemia in Western Australia. 22883975 2012
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease CLINVAR Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. 25647241 2015
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease CLINVAR Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia. 24627126 2014
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype. 7903864 1994
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study. 28965616 2017
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. 25647241 2015
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan. 17087781 2006
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436 2004
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 GeneticVariation disease CLINVAR Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom. 9026534 1996
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.200 CausalMutation disease CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735 2016