Annotation Detail
Information
- Associated Genes
- TIMP2
- Associated Variants
-
TIMP2 p.Ser101= (p.S101=)
(
ENST00000586057.5,
ENST00000586713.6,
ENST00000262768.11,
ENST00000536189.6,
ENST00000585421.5 )
TIMP2 p.Ser101= (p.S101=) ( ENST00000262768.11, ENST00000536189.6, ENST00000585421.5, ENST00000586057.5, ENST00000586713.6 ) - Associated Disease
- pulmonary emphysema
- Source Database
- DisGeNET
- Description
- The TIMP2 rs2277698 SNP was associated with overall (p = 0.022) and paraseptal (p = 0.010) emphysema, as well as with FEV₁/FVC ratio (p = 0.035) and MEF50 (p = 0.008).
- Pubmed
- 23734748
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2013
Drugs