PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Cerebellar signs ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		0.010 GeneticVariation phenotype BEFREE Three members of a Basque family carrying a novel six R2 octapeptide repeat 144-bp insertion in the prion protein gene (PRNP) showed a slowly progressive dementia associated with cerebellar signs, myoclonic jerks, and seizures. 9222181 1997