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 )
rs2542151
IL23R c.798+2778C>T ( ENST00000697165.1, ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000371007.6, ENST00000697163.1, ENST00000697164.1, ENST00000697230.1 )
NOD2 p.Pro268Thr (p.P268T) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Pro268Ser (p.P268S) ( ENST00000300589.6, ENST00000647318.2 )
rs2542151
IL23R c.798+2778C>T ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population.
Pubmed
22426692
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.233979891618359
Year of publication
2012
Drugs