Annotation Detail

Information
Associated Genes
NOD2
Associated Variants
NOD2 p.Arg702Trp (p.R702W) ( ENST00000647318.2, ENST00000300589.6 )
NOD2 p.Arg702Trp (p.R702W) ( ENST00000300589.6, ENST00000647318.2 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = 0.001) and in UC (2.3%, P = 0.03).
Pubmed
18680223
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.233979891618359
Year of publication
2008
Drugs