Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Arg459= (p.R459=)
(
ENST00000300589.6,
ENST00000647318.2 )
NOD2 p.Arg459= (p.R459=) ( ENST00000647318.2, ENST00000300589.6 )
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 )
NOD2 c.2798+265A>G ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Arg459= (p.R459=) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Arg459= (p.R459=) ( ENST00000300589.6, ENST00000647318.2 )
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 )
NOD2 c.2798+265A>G ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Ala1006ArgfsTer3 (p.A1006Rfs*3)
NOD2 p.Ala1006ArgfsTer3 (p.A1006Rfs*3) - Associated Disease
- ulcerative colitis
- Source Database
- DisGeNET
- Description
- Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with ulcerative colitis (UC), and 1446 healthy controls was analyzed for the NOD2 SNPs rs2066843 and rs2076756 and the three main CD-associated NOD2 variants p.Arg702Trp (rs2066844), p.Gly908Arg (rs2066847), and p.Leu1007fsX1008 (rs2066847).
- Pubmed
- 21209938
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.233979891618359
- Year of publication
- 2010
Drugs