Annotation Detail
Information
- Associated Genes
- DLG5
- Associated Variants
-
DLG5 c.*558G>A
(
ENST00000372391.7 )
DLG5 c.4968-36C>T ( ENST00000372391.7 )
DLG5 c.1438-2208T>C ( ENST00000372391.7 )
SLC22A4 c.393+6607C>T ( ENST00000200652.4 )
SLC22A4 p.Ile306Thr (p.I306T) ( ENST00000200652.4 )
rs273900
SLC22A5 c.1340-445T>C ( ENST00000245407.8, ENST00000415928.6, ENST00000435065.7, ENST00000689271.1, ENST00000692413.1, ENST00000693308.1 )
DLG5 c.*558G>A ( ENST00000372391.7 )
DLG5 c.4968-36C>T ( ENST00000372391.7 )
DLG5 c.1438-2208T>C ( ENST00000372391.7 )
SLC22A4 c.393+6607C>T ( ENST00000200652.4 )
SLC22A4 p.Ile306Thr (p.I306T) ( ENST00000200652.4 )
rs273900
SLC22A5 c.1340-445T>C ( ENST00000245407.8, ENST00000415928.6, ENST00000435065.7, ENST00000689271.1, ENST00000692413.1, ENST00000693308.1 ) - Associated Disease
- Inflammatory Bowel Diseases
- Source Database
- DisGeNET
- Description
- Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp299Gly and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) were assessed in 103 pediatric-onset and 696 adult-onset IBD patients.
- Pubmed
- 17476680
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.157420216520208
- Year of publication
- 2007
Drugs