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 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 c.2798+265A>G ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- pathologic fistula
- Source Database
- DisGeNET
- Description
- In CD patients homozygous for these novel NOD2 variants, genotype-phenotype analysis revealed higher rates of a penetrating phenotype (rs2076756: p = 0.015) and fistulas (rs2076756: p = 0.015) and significant associations with CD-related surgery (rs2076756: p = 0.003; rs2066843: p = 0.015).
- Pubmed
- 21209938
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2010
Drugs