Annotation Detail

Information
Associated Genes
PRNP
Associated Variants
PRNP p.Met129Val (p.M129V) ( ENST00000379440.9, ENST00000430350.2, ENST00000457586.2, ENST00000424424.2 )
PRNP p.Met129Val (p.M129V) ( ENST00000430350.2, ENST00000457586.2, ENST00000424424.2, ENST00000379440.9 )
Associated Disease
Prion Diseases
Source Database
DisGeNET
Description
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
Pubmed
22210626
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.481088376032419
Year of publication
2012
Drugs