Annotation Detail
Information
- Associated Genes
- NLRP3
- Associated Variants
-
CCDC97 c.*986G>A
(
ENST00000269967.4 )
NLRP3 p.Gln703Lys (p.Q703K) ( ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
CCDC97 c.*986G>A ( ENST00000269967.4 )
NLRP3 p.Gln703Lys (p.Q703K) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 ) - Associated Disease
- Interstitial fibrosis
- Source Database
- DisGeNET
- Description
- Our results support the hypothesis that the NLRP3 inflammasome is important in the development of fibrotic lung disease by associating the NLRP3 rs35829419 variant allele with increased risk of asbestos-related interstitial lung fibrosis, and the TGFB1 rs2241718 variant allele with decreased risk of asbestos-related VPF.
- Pubmed
- 24142982
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs