Annotation Detail
Information
- Associated Genes
- EPX
- Associated Variants
-
EPX MUTATION
EPX MUTATION - Associated Disease
- Deglutition Disorders
- Source Database
- DisGeNET
- Description
- We have (1) established a validated, parent proxy-reported measure for pediatric EoE, the PEESS v2.0; (2) verified that the parent proxy effectively captures symptoms; (3) determined that the dysphagia domain most closely aligns with symptoms and tissue-based molecular biomarkers; (4) established that symptoms correlate with EPX staining; and (5) observed association between mast cells and dysphagia.
- Pubmed
- 26051952
- Section of the abstract supporting the evidence
- CONCLUSION
- Number of the section of the abstract supporting the evidence
- 5
- Number of the sentence supporting the evidence
- 16
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs