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 CausalMutation disease CLINVAR THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. 14209286 1964
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 CausalMutation disease CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422 1973
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Editorial: Practice opportunities. 1057090 1975
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. 3924410 1985
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. 3955657 1986
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR The solution structure of human epidermal growth factor. 3495735 1987
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. 3025214 1987
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR The solution structure of human epidermal growth factor. 3495735 1987
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia. 3430554 1987
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport. 2901412 1988
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport. 2901412 1988
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. 3343347 1988
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia. 3263645 1988
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease 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 		0.900 CausalMutation 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 CausalMutation disease CLINVAR Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. 2760205 1989
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 CausalMutation disease CLINVAR Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus. 2565980 1989
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR 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
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR [The reaction of a population of redbacked voles (Clethrionomys glareolus) to pollution of the biogeocenosis by 137Cs]. 2698793 1989
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. 2760205 1989
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 CausalMutation disease CLINVAR Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins. 2600087 1989
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		0.900 GeneticVariation disease CLINVAR 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