Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR MUTATION
CFTR MUTATION - Associated Disease
- Lung diseases
- Source Database
- DisGeNET
- Description
- Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance regulator (CFTR) gene resulting in a loss of Cl(-) channel function, disrupting ion and fluid homeostasis, leading to severe lung disease with airway obstruction due to mucus plugging and inflammation.
- Pubmed
- 25453871
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0323650530826026
Drugs