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
Neurodegenerative Disorders
Source Database
DisGeNET
Description
Moreover, the codon 129 polymorphism (M129V) of the PRNP gene (the PrP(C)-encoding gene) has been associated with neurodegenerative disease development and severity, while no information is available regarding its role in colorectal cancer (CRC) incidence and disease progression.
Pubmed
20564346
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0197393117917414
Year of publication
2010
Drugs