PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Gerstmann-Straussler-Scheinker Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17852079
rs17852079
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.710 GeneticVariation BEFREE The patient with the shortest disease duration (27 months) carried a Y226X mutation and showed PrP-CAA without any neurofibrillary lesions, whereas the patient with the longest disease duration (72 months) had a Q227X mutation and showed an unusual Gerstmann-Sträussler-Scheinker disease phenotype with numerous cerebral multicentric amyloid plaques and severe neurofibrillary lesions without PrP-CAA. 19911184 2010
dbSNP: rs17852079
rs17852079
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		T 0.710 CausalMutation CLINVAR