PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933385
rs28933385
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0004134
Disease:
Ataxia 		0.010 GeneticVariation BEFREE A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia. 20514992 2010