Annotation Detail

Information
Associated Genes
NOD2
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
Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease.
Pubmed
15967635
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.396685649229943
Year of publication
2005
Drugs