Annotation Detail

Information
Associated Genes
IL12RB2
Associated Variants
IL23R c.1149-2391G>A ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697165.1, ENST00000697164.1, ENST00000697230.1, ENST00000697163.1 )
IL12RB2 c.1258+5605A>G ( ENST00000696755.1, ENST00000371000.5, ENST00000544434.5, ENST00000696757.1, ENST00000648487.1, ENST00000262345.5, ENST00000696754.1, ENST00000541374.6, ENST00000674203.2 )
IL23R c.1149-2391G>A ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
IL12RB2 c.1258+5605A>G ( ENST00000262345.5, ENST00000371000.5, ENST00000541374.6, ENST00000544434.5, ENST00000648487.1, ENST00000674203.2, ENST00000696754.1, ENST00000696755.1, ENST00000696757.1 )
Associated Disease
Giant Cell Arteritis
Source Database
DisGeNET
Description
Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis.
Pubmed
21285166
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2011
Drugs