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: C0009806
Disease: Constipation
Constipation
0.040 AlteredExpression phenotype BEFREE Cystic fibrosis transmembrane conductance regulator modulates enteric cholinergic activities and is abnormally expressed in the enteric ganglia of patients with slow transit constipation. 31392489 2019
CUI: C0009806
Disease: Constipation
Constipation
0.040 Biomarker phenotype BEFREE Direct comparison with the approved prosecretory drugs lubiprostone and linaclotide showed substantially greater intestinal fluid secretion with CFTR<sub>act</sub>-J027, as well as greater efficacy in a constipation model. 27815136 2017
CUI: C0009806
Disease: Constipation
Constipation
0.040 Biomarker phenotype BEFREE CFTR activators have potential therapeutic indications in constipation, dry eye, cholestatic liver diseases, and inflammatory lung disorders. 28230981 2017
CUI: C0009806
Disease: Constipation
Constipation
0.040 Biomarker phenotype BEFREE In the epithelium, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) or CFTR-associating proteins result in channelopathies with constipation or diarrhea as phenotypes. 27514480 2016