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 Smoking increases the risk for adult pancreatitis and has been shown to affect CFTR function in vitro. 31091219 2020
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 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 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 Biomarker disease BEFREE These findings indicate that impairment of CFTR is critical in the development of pancreatitis; therefore, correcting CFTR function could be the first specific therapy in pancreatitis. 26856995 2016
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Alterations to the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) also cause pancreatitis. 25447846 2015
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease BEFREE Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis. 25492507 2015
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Our study does not confirm that the CFTR p.Arg75Gln mutation confers a significant risk of pancreatitis both when considered individually and with a concurrent SPINK1 mutation, suggesting the role of other genetic and environmental factors. 24451227 2014
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE The frequency of CFTR mutations in patients with PC was not significantly different in comparison with healthy controls and controls with pancreatitis. 25003218 2014
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Nine variants (CFTR R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N) not associated with typical CF were associated with pancreatitis (OR 1.5, p = 0.002). 25033378 2014
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Genetically determined pancreatitis is associated with mutations in the PRSS1,SPINK1 and CFTR genes. 23751316 2013
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease BEFREE The frequency of PD was higher in patients with CFTR gene-associated pancreatitis as compared with those with idiopathic and alcoholic pancreatitis (P<0.0001) and with those with SPINK1 and PRSS1 gene-associated pancreatitis (P<0.02). 22158025 2012
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE This association, however, does not definitely confer a pathophysiological role for PD in pancreatitis but may denote that PD co-mingles with CFTR mutations without influencing pancreatitis or CFTR mutations influence pancreatic duct embryogenesis. 22306946 2012
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk. 23143602 2012
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Specific CFTR genotypes are significantly associated with pancreatitis. 22658665 2012
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease CTD_human Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk. 23143602 2012
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 Biomarker disease BEFREE In a cohort of patients with pHPT and pancreatitis mutations in the serine protease inhibitor Kazal type I (SPINK1) and cystic fibrosis transmembrane conductance regulator (CFTR) genes, that increase the risk for pancreatitis have already been detected. 20625975 2011
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE In individuals without cystic fibrosis (CF), variants of CFTR that inhibit bicarbonate conductance but maintain chloride conductance might selectively impair secretion of pancreatic juice, leading to trypsin activation and pancreatitis. 20977904 2011
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Patients with homozygous or compound heterozygous CFTR mutations have a risk of pancreatitis, but typically do not live long enough to develop pancreatic ductal adenocarcinoma (PDA), a disease that has an average age at diagnosis of 65 years. 21809164 2011
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE Notably, CFTR mutations not causal for classical cystic fibrosis segregate with unexplained pancreatitis and one of these lies in NBD1 near its ATP-clamp (S573C; close to the Walker B aspartate D572). 20332619 2010
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE In a population-based, well-defined group of patients first regarded as having pancreatitis of unknown origin (PUO), we identified, described, and compared the clinical and genetic aspects of patients with hereditary pancreatitis (HP) and with cystic fibrosis transmembrane conductance regulator gene (CFTR) and serine protease inhibitor Kazal type 1 gene (SPINK1) mutations with patients who retained the diagnosis of true idiopathic pancreatitis (tIP) after genetic testing for HP, SPINK1, and CFTR mutations. 20502448 2010
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease BEFREE The aims of this study were (1) to describe the natural history of pancreatitis associated with the CFTR mutation, (2) to look for genotype-phenotype correlations, and (3) to examine the frequency of CFTR mutations in a population of patients with IP. 20460946 2010
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
0.500 GeneticVariation disease LHGDN Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability. 19106752 2009