APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Disease: Dyslipidemias ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906567
rs387906567
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0242339
Disease:
Dyslipidemias 		0.010 GeneticVariation BEFREE The prevention of apoE4[R142C]-induced dyslipidemia by deletion of the 203-299 residues suggests that, in the full-length protein, the R142C substitution may have altered the conformation of apoE bound to VLDL/IDL/LDL in ways that prevent triglyceride hydrolysis, cholesterol esterification, and receptor-mediated clearance in vivo. 20861163 2011