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: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE No specific CFTR genotype was found predictive of pancreatitis. 27086061 2017
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease BEFREE Our findings reveal that correcting ductal function is sufficient to rescue acinar cell function and suggests that CFTR correctors are strong candidates for the treatment of Sjögren's syndrome and pancreatitis. 28634110 2017
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE The Importance of Aquaporin 1 in Pancreatitis and Its Relation to the CFTR Cl<sup>-</sup> Channel. 30050452 2018
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease BEFREE Recurrent pancreatitis is considered a rare manifestation of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction; this case series highlights that pancreatitis can be a presenting symptoms of cystic fibrosis (CF) or a CFTR-related disorder (CFTR-RD). 31268981 2019
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE These data suggest that any augmentation of CFTR function can reduce the risk of pancreatitis. 31611131 2019
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Smoking increases the risk for adult pancreatitis and has been shown to affect CFTR function in vitro. 31091219 2020