Annotation Detail
Information
- Associated Genes
- CCR5
- Associated Variants
-
ICAM1 p.Lys469Glu (p.K469E)
(
ENST00000264832.8,
ENST00000423829.2 )
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 ) - Associated Disease
- Inflammatory Bowel Diseases
- Source Database
- DisGeNET
- Description
- The frequency of well-known mutations (R702W, G908W and 1007fs in the NOD2 gene; K469E in the ICAM-1 gene, and Delta32 in the CCR5 gene) involved in IBD was tested in 45 patients with CD and 22 patients with UC.
- Pubmed
- 18647548
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00690559893384649
- Year of publication
- 2008
Drugs