Annotation Detail
Information
- Associated Genes
- SLC22A4
- Associated Variants
-
NOD2 p.Pro268Thr (p.P268T)
(
ENST00000647318.2,
ENST00000300589.6 )
NOD2 p.Pro268Ser (p.P268S) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Arg702Trp (p.R702W) ( ENST00000647318.2, ENST00000300589.6 )
ATG16L1 p.Thr317Ala (p.T317A) ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
NOD2 p.Pro268Thr (p.P268T) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Pro268Ser (p.P268S) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Arg702Trp (p.R702W) ( ENST00000300589.6, ENST00000647318.2 )
ATG16L1 p.Thr317Ala (p.T317A) ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 ) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95% CI = 1.34-4.75); (Arg702Trp, OR = 6.65, 95% CI = 1.99-22.17); (1007fs, OR = 9.59, 95% CI = 3.94-23.29), and a weak association between both the protective OCTN1/OCTN2 CC haplotype (OR = 0.28, 95% CI = 0.08-0.94), and a variant of ATG16L1 gene (Thr300Ala, OR = 0.468, 95% CI = 0.24-0.90) with Crohn's disease.
- Pubmed
- 18715515
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0796595423495149
- Year of publication
- 2008
Drugs