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 )
ICAM1 p.Gly241Arg (p.G241R) ( ENST00000264832.8, ENST00000423829.2 )
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 )
NOD1 p.Asp372Asn (p.D372N) ( ENST00000222823.9 )
NOD1 p.Glu266Lys (p.E266K) ( ENST00000222823.9 )
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 )
ICAM1 p.Gly241Arg (p.G241R) ( ENST00000264832.8, ENST00000423829.2 )
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 )
NOD1 p.Asp372Asn (p.D372N) ( ENST00000222823.9 )
NOD1 p.Glu266Lys (p.E266K) ( ENST00000222823.9 ) - Associated Disease
- Inflammatory Bowel Diseases
- Source Database
- DisGeNET
- Description
- The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020insC), NOD1/CARD4 (E266K, D372N), and ICAM-1 (G241R, K469E) genes, which are known to be associated with inflammation, in Turkish patients with inflammatory bowel disease and healthy control groups.
- Pubmed
- 16741608
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.396685649229943
- Year of publication
- 2006
Drugs