Annotation Detail

Information
Associated Genes
PRNP
Associated Variants
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
Associated Disease
Acquired CJD
Source Database
DisGeNET
Description
The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that caused by sCJD but different from that associated with fCJD(E200K) or FFI.
Pubmed
11756597
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0127577679877743
Year of publication
2001
Drugs