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
Inflammatory Bowel Diseases
Source Database
DisGeNET
Description
The aims were to analyze two novel NOD2 variants (rs2066843 and rs2076756) in a large cohort of patients with inflammatory bowel disease and to elucidate phenotypic consequences.
Pubmed
21209938
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.396685649229943
Year of publication
2010
Drugs