Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
IRF5 c.-12+413T>G
(
ENST00000357234.10,
ENST00000402030.6,
ENST00000477535.5,
ENST00000489702.6 )
IRF5 c.-12+413T>G ( ENST00000357234.10, ENST00000402030.6, ENST00000477535.5, ENST00000489702.6 ) - Associated Disease
- pulmonary fibrosis
- Source Database
- DisGeNET
- Description
- SSc patients of Han Chinese showed increased homozygous TT genotype of the rs2004640 (p = 0.027, odds ratio (OR) = 1.4, CI =1.03-1.93), which was significantly associated with pulmonary fibrosis of SSc and ATA-positive SSc of Han Chinese.
- Pubmed
- 25572744
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs