LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Familial hypercholesterolemia due to genetic defect of apolipoprotein B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275461
Disease: Familial hypercholesterolemia due to genetic defect of apolipoprotein B
Familial hypercholesterolemia due to genetic defect of apolipoprotein B 		0.010 Biomarker disease BEFREE Lipoprotein apheresis (LA) is the elective therapy for homozygous and other forms of Familial Hypercholesterolemia, Familial Combined Hypercholesterolemia, resistant/intolerant to lipid lowering drugs, and hyper-lipoproteinemia(a). 30087087 2018