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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE While there is an increasing interest in the correlation of cystic fibrosis transmembrane conductance regulator (CFTR) and cancer incidence, the role of CFTR in nasopharyngeal carcinoma (NPC) development remains unknown. 27769067 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE While there is an increasing interest in the correlation of cystic fibrosis transmembrane conductance regulator (CFTR) and cancer incidence, the role of CFTR in nasopharyngeal carcinoma (NPC) development remains unknown. 27769067 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease 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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease 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
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.100 Biomarker group 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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease 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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease 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
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 AlteredExpression disease BEFREE While CFTR modulation has been shown to alkalinize the pH of the alimentary tract and potentially augment pancreatic enzyme activity, the effect of ivacaftor on recurrent pancreatitis is emerging. 31296159 2019
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		0.160 AlteredExpression disease BEFREE While CFTR modulation has been shown to alkalinize the pH of the alimentary tract and potentially augment pancreatic enzyme activity, the effect of ivacaftor on recurrent pancreatitis is emerging. 31296159 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.100 Biomarker group BEFREE While CFTR-directed therapy has the highest potential to improve patients' outcome, it is important to continue to develop better treatment options for all aspects of CF lung disease. 24479826 2014
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.040 GeneticVariation disease 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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease 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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 AlteredExpression disease 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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE Where evidence is available for the impact of CFTR modulatory therapy, namely ivacaftor on comorbidities in CF, this is highlighted. 28554721 2017
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease LHGDN When we restored the F508del-CFTR trafficking in CFTR-reverted cells, the specific IP3R activity was also reduced to a similar level as in non CF cells. 18973672 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 Biomarker phenotype BEFREE When these findings are taken together, it may be seen that mature CFTR inhibits <i>C. jejuni</i> invasion by regulating microtubule-mediated pathways. 28784926 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE When the histological features of the breast cancers with a deltaF508 CFTR mutation were reviewed and graded using a combined architectural and cytological grading system, all were found to be grade III, poorly differentiated tumours, contrary to the predictions. 9761117 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 GeneticVariation disease BEFREE When the histological features of the breast cancers with a deltaF508 CFTR mutation were reviewed and graded using a combined architectural and cytological grading system, all were found to be grade III, poorly differentiated tumours, contrary to the predictions. 9761117 1998
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 AlteredExpression disease 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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE When miR mimics are expressed in CF lung or pancreatic cells, the expression of the F508del-CFTR protein is significantly increased. 26133785 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease LHGDN When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, or a normal phenotype. 14685937 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, or a normal phenotype. 14685937 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease CLINVAR When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, or a normal phenotype. 14685937 2004
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.040 GeneticVariation disease LHGDN What is the role of cystic fibrosis transmembrane conductance regulator dysfunction in primary sclerosing cholangitis? 17719926 2007
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		0.100 CausalMutation phenotype CLINVAR What can the CF registry tell us about rare CFTR-mutations? A Belgian study. 28830496 2017