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 To estimate cystic fibrosis (CF) birth rates in Canada from 1971 to 2000 and to assess the population impact of genetic testing in families with a history of CF, after identification of the CF transmembrane conductance regulator gene in 1989. 16182667 2005
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis is an autosomal-recessive disease that is caused by a mutant <i>CFTR</i> (cystic fibrosis transmembrane conductance regulator) gene and is characterized by chronic bacterial lung infections and inflammation. 31184507 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Liver disease is a severe complication in patients with Cystic Fibrosis (CF), a genetic disease caused by mutations in the gene encoding for cystic fibrosis transmembrane conductance regulator (CFTR) channel. 30071276 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE p.W493R-SCNN1A was detected in three female carriers of F508del CFTR who did not show any symptoms of respiratory or intestinal disease that could be interpreted as the manifestation of CF or CFTR-related disorder. 21917531 2012
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE The aim of this research was to determine if topical application of gentamicin to the nasal epithelium of patients with cystic fibrosis (CF) carrying stop mutations can express, in vivo, functional CFTR channels. 10712334 2000
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Based on previous studies demonstrating the beneficial effect of ivacaftor for PTC mutations following readthrough in vitro, we hypothesized that ivacaftor may enhance CFTR activity in CF patients expressing W1282X CFTR, and could be further enhanced by readthrough. 27707539 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE We suggest undertaking molecular studies extensively to annotate CFTR variants that will help Asian CF individuals to benefit from the precision medicine gaining momentum in the Western countries. 26437683 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE As it is the case for F508del-CFTR (the most common CF mutant), low temperature treatment partially rescues a functional A561E-CFTR channel, suggesting that substitution of glutamic acid for alanine at position 561 does not completely abolish CFTR function. 14623323 2003
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE We show in two independent CF populations that a lower newborn IRT estimate is associated with higher CFRD risk among individuals with severe CFTR genotypes, and we provide evidence to support a causal relationship. 24550193 2014
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Data on patients diagnosed with CF (N = 283), CFTR genotypes, CF carriers, and birth rate were collected. 26258862 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1000 cystic fibrosis transmembrane conductance regulator (CFTR) mutations presently described. 15698945 2004
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. 23810505 2013
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Oral glucose tolerance tests, mixed-meal tolerance tests, and glucose-potentiated arginine tests were compared preivacaftor initiation and 16 weeks postivacaftor initiation in CF participants with at least one CFTR gating or conductance mutation. 30130412 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE In this review, we provide the latest results and current progress of CFTR modulators for the treatment of cystic fibrosis, focusing on potentiators of CFTR channel gating and Phe508del processing correctors for the Phe508del CFTR mutation. 26097168 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Evidence is accumulating that secondary genetic factors separate from the CFTR locus significantly influence the severity of CF lung disease. 12677168 2003
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is a genetic inherited disease due to mutations in the gene cystic fibrosis transmembrane conductance regulator (CFTR). 29094263 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Here, we show that a simple cellular CF disease model based on the bronchial epithelial ΔF508 cell line CFBE41o- can be used to validate functional CFTR correction. 27526025 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE These observations suggest that CAPN1 constitutes an appealing target for pharmacological intervention, as part of CF combination therapies restoring Phe508del-CFTR function. 31324722 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE We did a 24-week, placebo-controlled, double-blind, randomised clinical trial, which enrolled 69 patients with cystic fibrosis aged 6 years and older with Arg117His-CFTR and percentage of predicted forced expiratory volume in 1 s (% predicted FEV1) of at least 40. 26070913 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE The majority of men with congenital absence of the vas deferens have a defect in both copies of the CFTR gene and therefore represent a distinct phenotypic form of cystic fibrosis. 8796848 1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is a genetic and life-limiting disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. 31715088 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE The most prevalent cause of cystic fibrosis (CF) is the deletion of a phenylalanine residue at position 508 in CFTR (ΔF508-CFTR) protein. 24818864 2014
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is due to a folding defect in the CF transmembrane conductance regulator (CFTR) protein. 25384981 2014
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE The most common mutation of CFTR, affecting approximately 90% of CF patients, is a deletion of phenylalanine at position 508 (F508del, ΔF508). 26863533 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is inherited as an autosomal recessive trait, and the mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene contributes to the CF syndrome. 15716623 2005