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 GeneticVariation disease CLINVAR Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia. 11737238 2001
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 Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada. 1493640 1992
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Identification of three new mutations of the low density lipoprotein receptor gene in Dutch familial hypercholesterolemic patients. 9452078 1998
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. 10882754 2000
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422 1973
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Molecular spectrum of autosomal dominant hypercholesterolemia in France. 20809525 2010
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR A de novo duplication in the low density lipoprotein receptor gene. 7581403 1995
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. 10532689 1999
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia. 8829662 1996
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations. 17347910 2007
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians. 9237502 1997
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia. 8740918 1996
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia. 8478013 1993
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. 16205024 2005
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients. 19837725 2010
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Familial moderate hypercholesterolemia caused by Asp235-->Glu mutation of the LDL receptor gene and co-occurrence of a de novo deletion of the LDL receptor gene in the same family. 9261272 1997
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890 2011
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. 15701167 2005
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country. 10657581 2000
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. 2569482 1989
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing. 8697568 1996
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia. 15015036 2004
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response. 9767373 1998