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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE Dual therapy with tez/iva has paved the way for triple CFTR modulation currently in clinical trials with an ultimate view to provide modulation therapy to the majority of CF genotypes in the future. 31626570 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE Despite the prospect of regulatory approval of a CFTR-targeting therapy for most CF mutations, strenuous efforts are still needed to fully comprehend CFTR structure-and-function for the development of better drugs to enable people with CF to live full and active lives. 31759907 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF), a lethal monogenic disease, is caused by pathogenic variants of the CFTR chloride channel. 31327045 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE However, CFTR modulators approved for use to date are highly expensive, which has prompted questions about the affordability of new treatments and served to emphasise the considerable gap in health outcomes for patients with cystic fibrosis between high-income countries, and low-income and middle-income countries (LMICs). 31570318 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE Taken together, our findings indicate that an increase in SLC26A9 expression in ductal cells of the pancreas delays the age at onset of diabetes, suggesting a CFTR-agnostic treatment for a major complication of CF. 31581148 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE Modulation of the cystic fibrosis transmembrane conductance regulator (CFTR) protein improves clinical outcomes in patients with cystic fibrosis (CF) and specific CFTR genetic mutations. 31604026 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE The Extra-pulmonary Effects of CFTR Modulators in Cystic Fibrosis. 31661636 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE The anion permeability through CFTR, mainly chloride, but bicarbonate as well, is the most critical factor in CF airway pathophysiology. 31734731 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE The identification of novel proteins playing key roles in the processing of CFTR could pave the way for their use as novel therapeutic targets to provide synergistic correction of mutant CFTR for the greater benefit of individuals with CF. 31680043 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE We assessed the safety and tolerability, pharmacokinetics and exploratory measures of efficacy of inhaled eluforsen in cystic fibrosis (CF) patients homozygous for the F508del-CFTR mutation. 31182369 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE In this review we focus on intestinal organoids as in vitro model for CF, enabling for CF disease classification, drug development and treatment optimization in a personalized manner, taking into account rare CFTR mutations and clinical heterogeneity among individuals with CF. 31787574 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE Ivacaftor improved lung function during the double-blind and open-label treatment periods in patients with CF and CFTR mutations associated with residual CFTR function (ClinicalTrials.gov, NCT01685801). 31784217 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE β-Adrenergic assays quantitate CFTR dysfunction in the secretory pathway of sweat glands in CF and CRMS/CFSPID populations. 31344706 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE Biochemical and biophysical characterizations of three nonsense mutations of cystic fibrosis transmembrane conductance regulator (CFTR) associated with a severe form of cystic fibrosis (CF) reveal the importance and heterogenous effects of the position of the premature termination codon (PTC) on the CFTR protein function. 31585024 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE This review addresses variants at the CFTR locus itself and CFTR CREs, together with the outcomes of the latest modifier gene studies with respect to the different CF phenotypes. 31734115 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE Cystic Fibrosis (CF) is the most common monogenic autosomal recessive disease in Caucasians caused by pathogenic mutations in the Cystic Fibrosis Transmembrane Conductance Regulator <i>(CFTR)</i> gene. 31732698 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE In addition, chronic inflammation characteristic of CF may contribute to growth failure via alteration in the GH-insulin-like growth factor 1 signaling and other changes in the growth plate. rhGH and new CFTR modulators may improve some growth parameters. 31815786 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE CFTR was sequenced in 61 Dominican Republican patients and 21 Puerto Rican patients with CF and greater than ​​​​60 mmol/L sweat chloride. 31665830 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE Due to a founder effect, Hutterites have a high rate of cystic fibrosis (CF) with genotypes limited to only two CFTR mutations. 31782915 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is caused by mutations in the gene encoding the CFTR anion channel. 31251978 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is an autosomal recessive genetic disorder resulting from a mutation in the gene which encodes a cellular transmembrane protein channel known as the CF transmembrane conductance regulator. 30529125 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE On average, we achieved 30%-50% allelic correction in UABCs and bronchial epithelial cells (HBECs) from 10 CF patients and observed 20%-50% CFTR function relative to non-CF controls in differentiated epithelia. 31839569 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker disease BEFREE Protein kinase CK2 has been previously suggested as an important player in regulating CFTR functions and it has been proposed as a pharmacological target in a combinatory therapy to treat CF patients. 31740403 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation disease BEFREE The deletion of phenylalanine 508 (F508del) in CFTR is the most common mutation responsible for cystic fibrosis. 31298435 2020
CUI: C0021364
Disease: Male infertility
Male infertility
0.500 GeneticVariation phenotype BEFREE The association between variants in the CFTR gene and nonobstructive male infertility: A meta-analysis. 31820482 2020