Annotation Detail

Information
Associated Genes
SLC22A5
Associated Variants
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 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 )
Associated Disease
Inflammatory Bowel Diseases
Source Database
DisGeNET
Description
To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CARD15 (R702W, G908R), OCTN1 1672C/T and OCTN2-207G/C in Chinese patients with inflammatory bowel disease (IBD).
Pubmed
18756601
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0197268372266672
Year of publication
2008
Drugs