Annotation Detail

Information
Associated Genes
NOD2
Associated Variants
NOD2 p.Pro268Thr (p.P268T) ( ENST00000647318.2, ENST00000300589.6 )
NOD2 p.Pro268Ser (p.P268S) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Pro268Thr (p.P268T) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Pro268Ser (p.P268S) ( ENST00000300589.6, ENST00000647318.2 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
Recent studies from India have reported an association with UC and a single polymorphism (SNP) in CARD15/NOD2 (SNP5, rs2066842), which has not been reported in Caucasian UC cohorts.
Pubmed
24145928
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.233979891618359
Year of publication
2014
Drugs