Annotation Detail

Information
Associated Genes
STAT4
Associated Variants
rs8182352
STAT4 c.274-23582A>C ( ENST00000392320.7, ENST00000358470.8, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
IRF5 c.-12+413T>G ( ENST00000357234.10, ENST00000402030.6, ENST00000477535.5, ENST00000489702.6 )
rs8182352
STAT4 c.274-23582A>C ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
IRF5 c.-12+413T>G ( ENST00000357234.10, ENST00000402030.6, ENST00000477535.5, ENST00000489702.6 )
Associated Disease
systemic scleroderma
Source Database
DisGeNET
Description
Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.
Pubmed
21149496
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.257188052464496
Year of publication
2011
Drugs