PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315409
rs74315409
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0497327
Disease:
Dementia
0.010 GeneticVariation BEFREE Although the M232R mutation has been reported to cause Creutzfeldt-Jakob disease, findings in our patient suggest that not all patients presenting progressive dementia with M232R mutation have Creutzfeldt-Jakob disease. 12451207 2002