rs28933385, PRNP

N. diseases: 25
Disease: Ataxia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ataxia
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