Annotation Detail
Information
- Associated Genes
- MMP12
- Associated Variants
-
MMP12 MUTATION
MMP12 MUTATION
MMP12 p.Gln356= (p.Q356=) ( ENST00000571244.3 )
MMP12 p.Gln356His (p.Q356H) ( ENST00000571244.3 )
MMP12 p.Asn357Ser (p.N357S) ( ENST00000571244.3 )
MMP12 p.Asn357Thr (p.N357T) ( ENST00000571244.3 ) - Associated Disease
- Chronic Obstructive Airway Disease
- Source Database
- DisGeNET
- Description
- To investigate the association of 3 polymorphisms of MMP genes (MMP-1 -1607G-->GG, MMP-9 -1562C-->T and MMP-12 N357S), which have been reported to be associated with COPD-related phenotypes, with the risk of COPD in a Korean population.
- Pubmed
- 20160424
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0247323430559516
- Year of publication
- 2010
Drugs