LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hyperlipoproteinemia Type IIa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		G 0.810 GeneticVariation CLINVAR
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		G 0.810 CausalMutation CLINVAR
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. 2726768 1989
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200 1991
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 1446662 1992
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748 1992
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973 1993
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548 1995
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia. 7635482 1995
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia. 7550239 1995
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Molecular genetics of familial hypercholesterolaemia in Norway. 9104431 1997
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195 1997
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. 9852677 1998
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Possible common mutations in the low density lipoprotein receptor gene in Chinese. 9452118 1998
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. 10090484 1999
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803 1999
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation BEFREE Because LDL-A modules occur as a series of contiguous repeats in the LDLR and related proteins, we investigated the impact of two FH mutations in LDL-A module five (D203G and D206E) and two mutations in module six (E219K and D245E) in the context of the covalently connected module five-six pair. 11052664 2000
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. 10882754 2000
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia. 11462246 2001
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. 15177124 2004
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. 17142622 2006
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations. 17347910 2007
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. 21600525 2011
dbSNP: rs121908028
rs121908028
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail. 22509010 2012