APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Hyperkeratosis lenticularis perstans ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans 		0.010 GeneticVariation disease BEFREE Forty-three patients with clinically and biochemically unequivocally defined type III hyperlipoproteinemia (HLP) were screened for the presence of the apolipoprotein (apo) B-100 arginine3500-->glutamine mutation. 1493642 1992