LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Polygenic hypercholesterolemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		0.030 Biomarker disease BEFREE A 3103 pb from LDLR (-625 to +2468) was sequenced in 125 subjects with PH. 24708769 2014
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		0.030 AlteredExpression disease BEFREE In summary, a slightly but constantly decreased cleavage-rate of the SREBP-2-595A-isoform compared to that of the SREBP-2-595G-isoform may lead to a reduced transcriptional activation of the LDL receptor-gene weakening the SREBP-mediated compensation mechanisms, and may, therefore, be a critical factor in the development of polygenic hypercholesterolaemia. 12119189 2002
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		0.030 Biomarker disease BEFREE The ability to identify mutant LDL receptor genes for prenatal diagnosis of homozygous FH or to study the role of the LDL receptor gene in polygenic hypercholesterolemia requires the use of closely linked RFLPs. 2563635 1989