LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Early-onset coronary artery disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4229399
Disease: Early-onset coronary artery disease
Early-onset coronary artery disease 		0.100 CausalMutation phenotype CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
CUI: C4229399
Disease: Early-onset coronary artery disease
Early-onset coronary artery disease 		0.100 CausalMutation phenotype CLINVAR Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes. 21642693 2011
CUI: C4229399
Disease: Early-onset coronary artery disease
Early-onset coronary artery disease 		0.100 GeneticVariation phenotype CLINVAR