Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Arg702Trp (p.R702W)
(
ENST00000647318.2,
ENST00000300589.6 )
NOD2 p.Arg702Trp (p.R702W) ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- short bowel syndrome
- Source Database
- DisGeNET
- Description
- NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome.
- Pubmed
- 20959815
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2011
Drugs