Annotation Detail
Information
- Associated Genes
- EPHX1
- Associated Variants
-
EPHX1 MUTATION
EPHX1 MUTATION - Associated Disease
- Chronic Obstructive Airway Disease
- Source Database
- DisGeNET
- Description
- NAC treatment in COPD patients with extremely slow/slow EPHX1 enzyme activity improves FEV1 and the SGRQ symptom score, especially in those with mild-to-moderate COPD, and polymorphism in the EPHX1 gene may have a significant role in differential responses to treatment with NAC in patients with COPD.
- Pubmed
- 25999707
- Section of the abstract supporting the evidence
- CONCLUSION
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 10
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.169736127983983
Drugs