Annotation Detail

Information
Associated Genes
NOD2
Associated Variants
NOD2 p.Arg702Trp (p.R702W) ( ENST00000647318.2, ENST00000300589.6 )
NOD2 p.Arg703Gly (p.R703G) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Arg703Cys (p.R703C) ( ENST00000647318.2, ENST00000300589.6 )
NOD2 p.Arg702Trp (p.R702W) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Arg703Gly (p.R703G) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Arg703Cys (p.R703C) ( ENST00000300589.6, ENST00000647318.2 )
Associated Disease
Ileal Diseases
Source Database
DisGeNET
Description
These results confirm that variant NOD2/CARD15 (R702W, R703C and 3020insC) alleles are associated with earlier disease onset, ileal disease, stricturing disease behavior in Hungarian CD patients.
Pubmed
15770725
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0277941485189556
Year of publication
2005
Drugs