rs11542041, APOE

N. diseases: 23
Disease: Hyperkeratosis lenticularis perstans ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperkeratosis lenticularis perstans
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
0.030 GeneticVariation BEFREE Recessive type III HLP is caused by apoE2 (Arg(158) Cys), a mutant with diminished low-density lipoprotein (LDL) receptor binding but halfnormal heparin binding. 11181800 2001
Hyperkeratosis lenticularis perstans
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
0.030 GeneticVariation BEFREE Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys). 8682150 1996
Hyperkeratosis lenticularis perstans
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
0.030 GeneticVariation BEFREE Although most subjects with type III HLP are homozygous for apolipoprotein (apo) E2 (arg158-->cys, R158C), a variant that binds defectively to cell surface receptors, some individuals with type III HLP have rare mutations of apo E. We identified six subjects from three families with type III HLP who had either an apo E3/1 or E4/1 phenotype by isoelectric focusing. 7883834 1995