Annotation Detail
Information
- Associated Genes
- STAT4
- Associated Variants
-
STAT4 c.274-23582A>C
(
ENST00000392320.7,
ENST00000358470.8,
ENST00000413064.6,
ENST00000432798.2,
ENST00000450994.2,
ENST00000714287.1 )
STAT4 c.274-23582A>C ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 ) - Associated Disease
- Primary biliary cirrhosis
- Source Database
- DisGeNET
- Description
- Among 21 non-HLA susceptibility loci for PBC identified in GWASs of individuals of European descent, three loci (IL7R, IKZF3, and CD80) showed significant associations (combined p = 3.66 × 10(-8), 3.66 × 10(-9), and 3.04 × 10(-9), respectively) and STAT4 and NFKB1 loci showed suggestive association with PBC (combined p = 1.11 × 10(-6) and 1.42 × 10(-7), respectively) in the Japanese population.
- Pubmed
- 23000144
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.121085767488321
- Year of publication
- 2012
Drugs