Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE A novel homozygous complex deletion in CFTR caused cystic fibrosis in a Chinese patient. 28620757 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. 27897275 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is a monogenetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which affects multiple organs. 28925369 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis is an autosomal recessive disorder due to mutations in CFTR gene leading to abnormality of chloride channels in mucus and sweat producing cells. 28449677 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Modeling cystic fibrosis disease progression in patients with the rare CFTR mutation P67L. 28392015 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Serum zinc concentration in cystic fibrosis patients with CFTR I1234V mutation associated with pancreatic sufficiency. 26096753 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE The peripheral protein quality control (QC) system removes non-native membrane proteins, including ΔF508-CFTR, the most common CFTR mutant in cystic fibrosis (CF), from the plasma membrane (PM) for lysosomal degradation by ubiquitination. 29503157 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis. 28194692 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE A Phase I program evaluated pharmacokinetics, drug-drug interactions and safety of cavosonstat in healthy and cystic fibrosis (CF) subjects homozygous for F508del-CFTR. 28209466 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is an autosomal recessive inherited multisystem disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. 29115094 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease. 28325531 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 Biomarker disease BEFREE PurposeThe purpose of this study was to model the performance of several known two-tier, predefined mutation panels and three-tier algorithms for cystic fibrosis (CF) screening utilizing the ethnically diverse California population.MethodsThe cystic fibrosis transmembrane conductance regulator (CFTR) mutations identified among the 317 CF cases in California screened between 12 August 2008 and 18 December 2012 were used to compare the expected CF detection rates for several two- and three-tier screening approaches, including the current California approach, which consists of a population-specific 40-mutation panel followed by third-tier sequencing when indicated.ResultsThe data show that the strategy of using third-tier sequencing improves CF detection following an initial elevated immunoreactive trypsinogen and detection of only one mutation on a second-tier panel.ConclusionIn a diverse population, the use of a second-tier panel followed by third-tier CFTR gene sequencing provides a better detection rate for CF, compared with the use of a second-tier approach alone, and is an effective way to minimize the referrals of CF carriers for sweat testing. 28471435 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE This pilot study evaluated the effect of short- and long-term ivacaftor treatment on hyperpolarized <sup>3</sup>He-magnetic resonance imaging (MRI)-defined ventilation defects in patients with cystic fibrosis aged ≥12years with a G551D-CFTR mutation. 28132845 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 Biomarker disease BEFREE An attractive possibility to treat Cystic Fibrosis (CF), a severe condition caused by dysfunctional CFTR, an epithelial anion channel, is through the activation of alternative (non-CFTR) anion channels. 29154949 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Etiological therapies aim at repairing the underlying cause of cystic fibrosis (CF), which is the functional defect of the cystic fibrosis transmembrane conductance regulator (CFTR) protein owing to mutations in the CFTR gene. 28937684 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Mutations in the cystic fibrosis transmembrane regulator (CFTR) gene can reduce function of the CFTR ion channel activity and impair cellular chloride secretion. 29360847 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE The CFTR-Associated Ligand Arrests the Trafficking of the Mutant ΔF508 CFTR Channel in the ER Contributing to Cystic Fibrosis. 29402832 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Here we report the effect of chaperone activity on the functional conformation of the temperature-sensitive mutant cystic fibrosis channel (∆F508-CFTR) at the plasma membrane and after reconstitution into phospholipid bilayer. 28855508 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, decreases sweat chloride concentration, and improves pulmonary function in 6% of cystic fibrosis (CF) patients with specific CFTR mutations. 28068001 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Nearly 2000 mutations in the cystic fibrosis transmembrane regulator (CFTR) gene have been reported. 29054758 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Heterozygous carriers of CFTR mutations do not develop cystic fibrosis but exhibit increased risk for pancreatitis and associated pancreatic damage characterized by elevated mucus levels, fibrosis, and cyst formation. 26856995 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) that compromise its chloride channel activity. 28394330 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene encodes an epithelial ion channel. 27469177 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles. 27738188 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is a life-shortening autosomal recessive disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). 27876591 2017