Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE β2-Adrenergic receptor agonists activate CFTR in intestinal organoids and subjects with cystic fibrosis. 27471203

2016

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE β-Adrenergic assays quantitate CFTR dysfunction in the secretory pathway of sweat glands in CF and CRMS/CFSPID populations. 31344706

2020

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE Yet a further way in which a pharmacological approach to CF can be considered is to recruit alternative chloride channels, such as calcium-activated chloride channel (CaCC), to act as surrogates for CFTR. 21108631

2011

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE With the increasing knowledge of cystic fibrosis (CF) and CFTR-related diseases (CFTR-RD), the number of sequence variations in the CFTR gene is constantly raising. 20607857

2010

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE With the improving survival of cystic fibrosis (CF) patients and the advent of highly effective cystic fibrosis transmembrane conductance regulator therapy, the clinical spectrum of this complex multisystem disease continues to evolve. 31659730

2019

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation BEFREE With the approval of promising small molecule correctors and potentiators, molecular characterization of Chinese-specific CFTR mutations will help to realize more precise treatment for Chinese CF patients. 30558651

2018

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE With the advent of highly effective CF transmembrane conductance regulator modulators that are increasingly available, many individuals with CF now have significantly improved life expectancy. 31659728

2019

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation BEFREE With the adapted Fischer rat thyroid-yellow fluorescent protein halide flux assay to the combination high-throughput screening platform, we identified many interesting single agents as CFTR modulators from a library of approved drugs and mechanistic probe compounds, and combinations that synergistically modulate F508del-CFTR channel function in Fischer rat thyroid cells, demonstrating the potential for combination therapeutics to address the defects that cause CF. 21050065

2010

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE With restoration of adequate CFTR function through pharmacotherapy, it is possible that the clinical course of patients with CF could be markedly improved, including longevity, quality of life and treatment burden. 23616952

2013

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE With improvements in efficacy, manipulating the airway epithelium to make it permissive towards cell transplantation may provide another option for safe and effective correction of CF transmembrane conductance regulator function in CF airways. 29895311

2018

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE With differentiated cystic fibrosis (CF) airway epithelia in vitro, a 20-min application of Ad:CaPi coprecipitates that encode CF transmembrane conductance regulator produced as much CF transmembrane conductance regulator Cl- current as a 24-h application of adenovirus alone. 9649572

1998

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation BEFREE With a view to assessing genotype-to-phenotype correlations in cystic fibrosis (CF), the clinical presentation of CF children from the United Arab Emirates (UAE) who were homozygous for cystic fibrosis transmembrane conductance regulator (CFTR) mutation S549R(T-->G was investigated. 10836331

1999

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation BEFREE Wild type and mutant CFTR channels can be activated by curcumin, a well tolerated dietary compound with some appeal as a prospective CF therapeutic. 19740743

2009

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation BEFREE Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. 27488443

2016

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE While the safety and effectiveness remain to be demonstrated, these observations suggest the feasibility of in vivo CFTR gene transfer as therapy for the pulmonary manifestations of CF. 1370653

1992

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation BEFREE While over 1000 mutations in CFTR have been associated with CF, the majority of cases are linked to the deletion of phenylalanine 508 (delta F508). 18080175

2007

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation BEFREE While all patients with cystic fibrosis (CF) have mutations in both CFTR alleles, often only one CFTR change is detected in patients with other lung disorders. 15151509

2004

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE While a major target in cystic fibrosis (CF) research in recent years has been the development of corrector and potentiator drugs targeting the cystic fibrosis transmembrane conductance regulator (CFTR) protein, these therapies have not yet proven robust enough to replace or eliminate other therapies that have demonstrated improved health outcomes and quality of life in patients with CF. 26335956

2015

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation BEFREE Whereas some complex-glycosylated CFTR was often present in rectal biopsies of F508del homozygous subjects, no mature CFTR was detectable in CF lungs at the stage of terminal respiratory insufficiency. 22832190

2012

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 AlteredExpression BEFREE Whereas mutant CFTR expression in leukocytes outside of the lung does not markedly impair their function, the expected regulation of inflammation in the airways is clearly deficient in cystic fibrosis. 22481418

2012

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE Where evidence is available for the impact of CFTR modulatory therapy, namely ivacaftor on comorbidities in CF, this is highlighted. 28554721

2017

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 AlteredExpression BEFREE When normal CFTR cDNA was overexpressed via a retroviral vector in CF or normal airway epithelial cells or in mouse fibroblasts, the protein produced had an apparent molecular mass of about 180 kDa. 1370488

1992

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation BEFREE When miR mimics are expressed in CF lung or pancreatic cells, the expression of the F508del-CFTR protein is significantly increased. 26133785

2015

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE We, therefore, tested the hypothesis that CS exerts direct effects on the CFTR protein, which could impair airway hydration, leading to the mucus stasis characteristic of both cystic fibrosis and CB. 21990373

2012

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker BEFREE We, therefore, set out to find small molecule binders of NBD1 and test whether it is possible to develop these molecules into potent binders that increase CFTR trafficking in CF-patient-derived human bronchial epithelial cells. 26444971

2016