LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: lipoprotein disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0596848
Disease: lipoprotein disorder
lipoprotein disorder 		0.010 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an autosomal dominant lipoprotein disorder caused by defects in the low density lipoprotein (LDL) receptor (R) gene. 10487495 1999