rs752600356, APOE

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
0.020 GeneticVariation BEFREE The polymorphism at codon 129 (M129V) of the human prion protein gene (PRNP) is a known risk factor for Creutzfeldt-Jakob disease (CJD) in Caucasians. 17202849 2006
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
0.020 GeneticVariation BEFREE Prion protein gene polymorphism M129V represents a known risk factor for Creutzfeldt-Jakob disease. 16897605 2006
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.010 GeneticVariation BEFREE Two APOE cSNPs (rs429358 and rs7412) resulting in three isoforms and M129V (rs1799990) polymorphism of PRNP were examined for their association with WD and its clinical phenotypes. 29059476 2018
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
0.010 GeneticVariation BEFREE No significant difference in M129V polymorphism was found between sCJD with and without PFHD. 17822808 2009
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.010 GeneticVariation BEFREE To determine whether M129V polymorphism is a risk factor for AD we analyzed a group of early-onset, and late-onset Polish AD patients. 16897605 2006