Annotation Detail
Information
- Associated Genes
- IL23R
- Associated Variants
-
IL23R c.653-2380G>A
(
ENST00000697165.1,
ENST00000347310.10,
ENST00000697154.1,
ENST00000371007.6,
ENST00000697163.1,
ENST00000697164.1,
ENST00000697230.1 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000697230.1, ENST00000697164.1, ENST00000697163.1, ENST00000697154.1, ENST00000425614.3, ENST00000347310.10, ENST00000697165.1 )
IL23R c.653-2380G>A ( ENST00000347310.10, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 ) - Associated Disease
- ulcerative colitis
- Source Database
- DisGeNET
- Description
- rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC.
- Pubmed
- 17786191
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.326936272243952
- Year of publication
- 2007
Drugs