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: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Association of M470V polymorphism of CFTR gene with variability of clinical expression of asthma: Case-report study. 30268379 2019
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease BEFREE More recently, CFTR dysfunction has also been implicated in the pathogenesis of acute pancreatitis, chronic obstructive pulmonary disease (COPD), and the hyper-responsiveness in asthma, underscoring its fundamental role in whole body health and disease. 27714410 2017
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population. 24440239 2014
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE To find out the association of S549N and IVS8-5T variants of the CFTR gene with bronchial asthma and its severity and to assess the combinational effect of S549N and IVS8-5T variants on severity of disease. 22533779 2012
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease BEFREE Therefore, studies with sufficiently large sample size and detailed phenotype are required to define the potential contribution of CFTR in the pathogenesis of asthma. 22664493 2012
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE The odds of encountering CFTR mutation was higher in ABPA compared with the control group (OR 10.39; 95% CI, 4.35-24.79) or the asthma population (OR 5.53; 95% CI 1.62-18.82). 21999194 2012
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease BEFREE Cystic fibrosis transmembrane conductance regulator gene abnormalities in patients with asthma and recurrent neutrophilic bronchitis. 22332135 2012
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE To assess the association of CFTR gene mutation with asthma and its severity as per GINA guidelines. 22324837 2012
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE We have concluded that this study did not show any evidence in support of providing that CFTR genetic variations significantly contribute to the susceptibility of asthma in Korean children. 20879059 2010
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE To identify new markers of asthma and COPD to implement in clinical practice, we genotyped for common genetic variants in the cystic fibrosis transmembrane conductance regulator (CFTR), alpha(1)-antitrypsin, and mannose-binding lectin (MBL) genes, and measured baseline fibrinogen and C-reactive protein (CRP) concentrations in up to 9245 adults randomly selected from the Danish general population. 20298391 2009
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease BEFREE In patients with CF, a dysfunctional CFTR channel could contribute to the asthma diathesis and gastrointestinal problems experienced by these patients. 18757309 2009
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Possible associations between asthma, reduced lung function, bronchial hyperresponsiveness (BHR), and increased or decreased nitrogen oxide (NO) levels (based on structural parental interview, spirometry, PD20 methacholine challenge test and exhaled NO measurements), and the five most common CFTR mutations in Norway (DeltaF508, R117H, R117C, 4005+2T-->C, 394delTT), the modulating polymorphisms IVS8(TG)mTn and the IVS8-5T were investigated. 16678395 2006
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE Little is known about the relationship between cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asian patients and severe asthma or idiopathic bronchiectasis. 16678503 2006
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE 6.7% of 7T homozygotes without an F508del allele in the cystic fibrosis transmembrane conductance regulator gene reported asthma vs. 11% of 7T/9T individuals with an F508del allele (chi2: P = 0.01) and 40% of 7T homozygotes with an F508del allele (P = 0.04). 16212675 2005
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease BEFREE These results confirm the involvement of the CFTR gene in asthma, DB and possibly in COPD. 11354633 2001
CUI: C0004096
Disease: Asthma
Asthma
0.200 GeneticVariation disease BEFREE These findings suggest a putative role for a combination of CFTR missense mutations, including the M470 allele, in the genetic variability of asthma. 10571949 1999
CUI: C0004096
Disease: Asthma
Asthma
0.200 Biomarker disease HPO
CUI: C0004096
Disease: Asthma
Asthma
0.200 CausalMutation disease CLINVAR