Annotation Detail

Information
Associated Genes
IL1B
Associated Variants
CARD8 p.Phe102Ile (p.F102I) ( ENST00000391898.7, ENST00000447740.6, ENST00000519940.6, ENST00000520015.5, ENST00000520153.5, ENST00000520753.5, ENST00000521613.5, ENST00000651546.1 )
CARD8 p.Phe102Ile (p.F102I) ( ENST00000391898.7, ENST00000447740.6, ENST00000519940.6, ENST00000520015.5, ENST00000520153.5, ENST00000520753.5, ENST00000521613.5, ENST00000651546.1 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
The stop allele of rs2043211 was associated with higher serum interleukin-1β levels only in female patients with UC (P = 0.027).
Pubmed
21248762
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.144069907179952
Year of publication
2011
Drugs