Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR MUTATION
CFTR MUTATION - Associated Disease
- Dehydration
- Source Database
- DisGeNET
- Description
- Defective CFTR leads to epithelial surface dehydration, altered pH/electrolyte composition and mucin concentration.
- Pubmed
- 24685676
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
Drugs