Annotation Detail

Information
Associated Genes
PRNP
Associated Variants
PRNP p.Pro102Leu (p.P102L) ( ENST00000457586.2, ENST00000430350.2, ENST00000379440.9, ENST00000424424.2 )
PRNP p.Pro102Leu (p.P102L) ( ENST00000379440.9, ENST00000457586.2, ENST00000430350.2, ENST00000424424.2 )
Associated Disease
schizophrenia
Source Database
DisGeNET
Description
Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease.
Pubmed
12682740
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0104542063142187
Year of publication
2003
Drugs