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: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE CF mutations, of which the most common is F508del-CFTR, prevents correct folding, trafficking and function of the mutant CFTR protein and is further manifested by the hyper-expression of pro-inflammatory cytokines and chemokines into the airway lumen leading to bronchiectasis and culminating in lung destruction. 31842871 2019
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE Besides patients with atypical CF, there are large numbers of so-called monosymptomatic diseases such as various forms of obstructive azoospermia, idiopathic pancreatitis or disseminated bronchiectasis associated with CFTR mutations uncharacteristic for CF. 10773783 2000
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease BEFREE This was a series of randomized, crossover N-of-1 trials of ivacaftor and placebo in CF patients ≥8 years old with potential residual CFTR function (intermediate sweat chloride concentration, pancreatic sufficient, or mild bronchiectasis on chest CT). 28068001 2017
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease BEFREE Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis. 20167849 2010
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE Comparison of clinical features of ACS showed that only a family history of chronic sinusitis (P <.01) or chronic bronchitis (P <.02) and the presence of diffuse bronchiectasis (P <.0001) or serous otitis media (P <.0001) were significantly more frequent in PCD patients than in patients carrying CFTR gene mutations or those without PCD or CFTR gene mutations. 15126740 2004
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE We have performed the CFTR gene analysis in a cohort of 55 bronchiectasis adult patients with unknown etiology. 15151509 2004
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease BEFREE CFTR dysfunction can be involved in CBAVD, pancreatitis or bronchiectasis. 26526220 2016
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease BEFREE The identification of the cystic fibrosis gene and its product, cystic fibrosis transmembrane conductance regulator (CFTR), has widened the spectrum of the disease from the classical case of the infant with cystic fibrosis to the elderly childless man with unexplained bronchiectasis. 11420207 2001
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE In this search, different CFTR gene mutations (R75Q, delta F508, R1066C, M1137V and 3667ins4) were found in five out of 16 adult Italian patients with disseminated bronchiectasis, a significant increase over the expected frequency of carriers. 7543317 1995
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. 11354633 2001
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE These results confirm the involvement of the CFTR gene in disseminated bronchiectasis of unknown origin, and suggest a possible role for CFTR gene mutations in sarcoidosis, and for the 5T allele in pulmonary emphysema. 9921909 1998
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE Complex disease alleles and modifier genes are discussed along with alternative disorders, such as disseminated bronchiectasis and pancreatitis, which are also thought to result from CFTR mutations. 12940920 2003
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 CausalMutation disease CLINVAR
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease BEFREE However, translation of cystic fibrosis transmembrane conductance regulator (CFTR) genotype into CF phenotype is influenced by nucleotide sequence variations at multiple genetic loci, and individuals heterozygous for CFTR mutations are predisposed to a range of CFTR-related conditions, such as disseminated bronchiectasis. 21837768 2011
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease BEFREE The lack of CFTR or its impaired function causes fat malabsorption and chronic pulmonary infections leading to bronchiectasis and progressive lung damage. 27709245 2017
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE CFTR gene mutations in adults with disseminated bronchiectasis. 9272738 1997
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease BEFREE New evidence suggests that CFTR dysfunction may play a role in other common airways diseases such as COPD, non-atopic asthma and non-CF bronchiectasis. 29132121 2017
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE Six DNA segments containing PFs were scanned for mutations by denaturing gradient gel electrophoresis (DGGE) in patients with CF (n = 29), congenital bilateral absence of the vas deferens (n = 143), or disseminated bronchiectasis (n = 33), for whom only one or no mutations had been identified despite extensive DGGE analysis of the 27 CFTR exons and exon/intron boundaries. 9507393 1998
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE Recently, the role of the epithelial sodium channel ENaC has been pointed out in the pathophysiology of cystic fibrosis, a disease due to mutations in the CFTR gene and causing bronchiectasis in the airways. 18507830 2008
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease HPO
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 Biomarker disease BEFREE Should diffuse bronchiectasis still be considered a CFTR-related disorder? 25797027 2015
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system. 12123489 2002
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.500 GeneticVariation disease BEFREE This study suggests a possible deleterious effect of the cystic fibrosis transmembrane conductance regulator mutated protein in the airways which may predispose to the development and severity of bronchiectasis in patients suffering from rheumatoid arthritis. 10445602 1999