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
Crohn Disease
Source Database
DisGeNET
Description
Granulomatous rosacea and Crohn's disease in a patient homozygous for the Crohn-associated NOD2/CARD15 polymorphism R702W.
Pubmed
18616576
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.56
Year of publication
2008
Drugs