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
Epilepsy, Temporal Lobe
Source Database
DisGeNET
Description
Association between the M129V variant allele of PRNP gene and mild temporal lobe epilepsy in women.
Pubmed
17092648
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.010725648186299
Year of publication
2007
Drugs