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: C0024809
Disease: Marijuana Abuse
Marijuana Abuse
0.010 AlteredExpression disease BEFREE This study provides the first evidence that THC present in marijuana reduces the expression and function of CFTR in airway epithelial cells. 29928919 2018
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
0.010 GeneticVariation disease BEFREE Our proof-of-principle results point out a high accuracy for early detection of paternal NF1 and CFTR mutations in cell-free DNA, and open new perspectives for extending the technology to NIPD of many other monogenic diseases. 29613853 2018
CUI: C0151476
Disease: Hypochloremic alkalosis
Hypochloremic alkalosis
0.010 GeneticVariation disease BEFREE S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein. 29298718 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 Biomarker disease BEFREE In the present study, we aimed to interrogate the impact of cystic fibrosis transmembrane conductance regulator on the nicotine-promoted progressive potency in lung adenocarcinoma cells by assessing capacities of cystic fibrosis transmembrane conductance regulator to cell migration, invasion, and clonogenicity and the expression of markers of cell proliferation and lung stem cell-related transcription factors in lung adenocarcinoma A549 cells. 30384810 2018
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.010 Biomarker disease BEFREE We conclude that CFTR inhibits the growth and migration of esophageal cancer cells by downregulating of the NF-κB protein expression. 30358020 2018
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.010 Biomarker group BEFREE Further, the results from the Ussing chamber assay indicated that caffeine promoted Cl- secretion through enterocyte apical cystic fibrosis transmembrane conductance regulator (CFTR), and thus inhibited sodium absorption. 29558753 2018
CUI: C0239182
Disease: Watery diarrhoea
Watery diarrhoea
0.010 Biomarker phenotype BEFREE In conclusion, EspP stimulates colonic CFTR-independent active ion transport and may be involved in the pathophysiology of EHEC diarrhea.Serine protease toxins from <i>E. coli</i> pathogens appear to serve as enterotoxins, potentially significantly contributing to watery diarrhea. 30200426 2018
CUI: C0332882
Disease: congenital obstruction
congenital obstruction
0.010 Biomarker disease BEFREE Cystic fibrosis transmembrane conductance regulator gene evaluation in case of suspicion for incomplete congenital obstruction of the genital tract. 30134082 2018
CUI: C0520571
Disease: Fibrosis of bile duct
Fibrosis of bile duct
0.010 Biomarker disease BEFREE Liver disease in cystic fibrosis has many causes, with biliary fibrosis due to abnormal CFTR protein predominating. 29933897 2018
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.010 Biomarker disease BEFREE We conclude that CFTR inhibits the growth and migration of esophageal cancer cells by downregulating of the NF-κB protein expression. 30358020 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE As one of the most important anion channels in organisms, cystic fibrosis transmembrane conductance regulator (CFTR) is proposed as a tumor suppressor in carcinogenesis and development of prostate cancer in recent studies. 30485539 2018
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.010 AlteredExpression disease BEFREE In this study, CBS<sup>+/-</sup> mice were fed with regular diet for 12 weeks to establish a hyperhomocysteinemia (HHcy) model and HL-7702 cells were treated with Hcy, we found that Hcy increases autophagy and aggravates liver injury by downregulation of cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo and in vitro. 29415998 2018
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea
0.010 Biomarker phenotype BEFREE Cholera toxin (CT) causes severe diarrhea by increasing intracellular cAMP leading to a PKA-dependent increase in Cl<sup>-</sup> secretion through CFTR and decreased Na<sup>+</sup> absorption through inhibition of Na<sup>+</sup>/H<sup>+</sup> exchanger 3 (NHE3; also known as SLC9A3). 30030371 2018
Liver Disease Associated with Cystic Fibrosis
0.010 Biomarker disease BEFREE Novel therapeutic agents such as CF transmembrane conductance regulator (CFTR) modulators and potentiators are encouraging but need to be evaluated specifically in CFLD. 29438119 2018
CUI: C3825312
Disease: Cystic fibrosis in children
Cystic fibrosis in children
0.010 GeneticVariation disease BEFREE Ivacaftor treatment of cystic fibrosis in children aged 12 to <24 months and with a CFTR gating mutation (ARRIVAL): a phase 3 single-arm study. 29886024 2018
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 Biomarker disease BEFREE Collectively, the present results suggest that the CFTR-NFκB-uPAR signaling may contribute to the progression of human endometriosis, and indicate potential targets for diagnosis and treatment. 28978008 2017
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction
0.010 AlteredExpression phenotype BEFREE Here, we report that CFTR expression is downregulated in the UUO (unilateral ureteral obstruction)-induced kidney fibrosis mouse model and human fibrotic kidneys. 28701694 2017
CUI: C0042880
Disease: Vitamin K Deficiency
Vitamin K Deficiency
0.010 GeneticVariation disease BEFREE However, not liver cirrhosis, but the presence of a F508del CFTR mutation constitutes an independent risk factor for vitamin K deficiency. 28185838 2017
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
0.010 Biomarker disease BEFREE Taken together, our study reveals a novel mechanism by which CFTR regulates Wnt/β-catenin signaling pertinent to progression of kidney fibrosis and indicates a potential treatment target. 28701694 2017
CUI: C0155877
Disease: Allergic asthma
Allergic asthma
0.010 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: C0206081
Disease: Hyperandrogenism
Hyperandrogenism
0.010 GeneticVariation disease BEFREE Abnormal glucose levels are often seen in cystic fibrosis (CF), a systematic disease caused by mutations of the CF transmembrane conductance regulator (CFTR), and in polycystic ovarian syndrome (PCOS), an endocrine disorder featured with hyperandrogenism affecting 5-10% women of reproductive age. 29204121 2017
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction
0.010 GeneticVariation disease BEFREE Inhibitors of phosphodiesterase 5 (PDE5) - sildenafil citrate (Viagra; Pfizer) and vardenafil hydrochloride (Levitra; Bayer/GlaxoSmithKline) - approved for the treatment of erectile dysfunction and pulmonary arterial hypertension also rescue the loss of cystic fibrosis (CF) chloride channel function and the mislocalization of F508del-CFTR in affected tissues in CF. 28533270 2017
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.010 Biomarker phenotype BEFREE The results reveal that by potentiating KATP channels, CFTR acts as a glucose-sensing negative regulator of glucagon secretion in α cells, a defect of which may contribute to glucose intolerance in CF and other types of diabetes. 28977595 2017
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
0.010 GeneticVariation phenotype BEFREE Based on our data, we can conclude: 1) HNEC brushing is performed without anaesthesia and is well tolerated in all CF patients (children and adults); 2) HNECs can be preserved for up to 48 hours before culture allowings multicentre studies; 3) HNECs culture can be considered a suitable model to study the molecular effects of new CFTR gene mutations and/or uncertain meaning specific mutations of carriers; 4) an ex vivo model of HNECs may be used to evaluate, before human use, the effect of new drugs on patients' cells bearing specific CFTR mutations; 5) the methodology is adequate for a quantitative measurement, by fluorescence, of the CFTR gating activity of the HNECs from patients with different genotypes identifying: a) CF patients bearing two severe mutations with an activity < 10% (compared to controls - 100%); b) CF patients bearing at least a mild mutation with an activity of 10-20%; c) CF carriers (heterozygous subjects) with an activity between 40-70%. 27897275 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 AlteredExpression disease BEFREE RESULTS Compared with cells from normal endometrium, the expression of CFTR was significantly upregulated in endometrial carcinoma cells. 28225751 2017