PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Creutzfeldt-Jakob disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769346296
rs769346296
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.030 GeneticVariation BEFREE Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report. 31238786 2019
dbSNP: rs769346296
rs769346296
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.030 GeneticVariation BEFREE Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease. 27310471 2016
dbSNP: rs769346296
rs769346296
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.030 GeneticVariation BEFREE Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease. 23787189 2014