CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008354
Disease: Cholera
Cholera
0.060 Biomarker disease BEFREE Cholera toxin (CT)-induced diarrhea is mediated by cyclic adenosine monophosphate (cAMP)-mediated active Cl- secretion via the cystic fibrosis transmembrane conductance regulator (CFTR). 30624615 2019
CUI: C0008354
Disease: Cholera
Cholera
0.060 Biomarker disease BEFREE Our finding that the CFTR-AC6 protein complex is the key mediator of CTX-associated diarrhea may facilitate development of antidiarrheal agents to manage cholera symptoms and improve outcomes. 29903911 2018
CUI: C0008354
Disease: Cholera
Cholera
0.060 Biomarker disease BEFREE Cholera toxin (CT) causes severe diarrhea by increasing intracellular cAMP leading to a PKA-dependent increase in Cl<sup>-</sup> secretion through CFTR and decreased Na<sup>+</sup> absorption through inhibition of Na<sup>+</sup>/H<sup>+</sup> exchanger 3 (NHE3; also known as SLC9A3). 30030371 2018
CUI: C0008354
Disease: Cholera
Cholera
0.060 AlteredExpression disease BEFREE The intestinal consequences of cholera enterotoxin are caused by activation of the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel through the actions of an as-yet-unknown adenylate cyclase. 30120153 2018
CUI: C0008354
Disease: Cholera
Cholera
0.060 GeneticVariation disease BEFREE Cholera toxin or verotoxin (Shiga toxin) containing genetically inactivated (± an N-terminal polyleucine tail) A subunit can, within 2-4 hrs, temporarily increase F508delCFTR protein, the major cystic fibrosis (CF) mutant (5-10x), F508delCFTR Golgi maturation (<10x), cell surface expression (20x) and chloride transport (2x) in F508del CFTR transfected cells and patient-derived F508delCFTR bronchiolar epithelia, without apparent cytopathology. 27935997 2016
CUI: C0008354
Disease: Cholera
Cholera
0.060 Biomarker disease BEFREE Thiazolidinone CFTR inhibitors may be useful in developing large-animal models of cystic fibrosis and in reducing intestinal fluid loss in cholera and other secretory diarrheas. 12464670 2002