Annotation Detail
Information
- Associated Genes
- IL23R
- Associated Variants
-
NOD2 p.Arg702Trp (p.R702W)
(
ENST00000647318.2,
ENST00000300589.6 )
NOD2 p.Gly908Arg (p.G908R) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Gly908Cys (p.G908C) ( ENST00000300589.6, ENST00000647318.2 )
IL23R c.1045+41T>G ( ENST00000425614.3, ENST00000347310.10, ENST00000697154.1, ENST00000697165.1, ENST00000697230.1, ENST00000697164.1, ENST00000697163.1 )
NOD2 p.Arg702Trp (p.R702W) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Gly908Arg (p.G908R) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Gly908Cys (p.G908C) ( ENST00000300589.6, ENST00000647318.2 )
IL23R c.1045+41T>G ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
NOD2 p.Leu1007ProfsTer2 (p.L1007Pfs*2)
NOD2 p.Leu1007ProfsTer2 (p.L1007Pfs*2) - Associated Disease
- Inflammatory Bowel Diseases
- Source Database
- DisGeNET
- Description
- In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r SNP (rs11465804) showed a significant association to IBD (p < 0.03).
- Pubmed
- 22269043
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.340104897278974
- Year of publication
- 2012
Drugs