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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.110 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.110 Biomarker phenotype BEFREE None of the patients who remained on CFTR modulators developed an episode of AP or required hospitalization for AP related abdominal pain during follow-up. 31611131 2019
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		0.100 Biomarker phenotype HPO
CUI: C4476900
Disease: Abnormal pancreatic duct morphology
Abnormal pancreatic duct morphology 		0.100 Biomarker phenotype HPO
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		0.100 Biomarker disease HPO
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis 		0.100 Biomarker disease HPO
CUI: C4023591
Disease: Abnormality of circulating enzyme level
Abnormality of circulating enzyme level 		0.100 Biomarker phenotype HPO
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: C0403819
Disease: Acquired obstructive azoospermia
Acquired obstructive azoospermia 		0.010 GeneticVariation disease BEFREE Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of vas deferens and other acquired obstructive azoospermia. 23953609 2013
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
Acute bronchitis and bronchiolitis 		0.100 CausalMutation disease CLINVAR
CUI: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia 		0.100 Biomarker disease HPO
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.020 Biomarker disease BEFREE Results of this year's investigations further elucidated the genetic associations of tropical pancreatitis, a reversible mislocalization of ductal CFTR in AIP, the association of asymptomatic pancreatic hyperenzymemia with pancreatic disorders, limitations of diagnostic tests for EPI, diagnosis of chronic pancreatitis by EUS and endoscopic pancreatic function testing and treatment of pain. 21844753 2011
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.020 GeneticVariation disease BEFREE CFTR variants are associated with AIP.Because AIP patients with CFTR variants show slower and reduced steroid treatment responses, different treatments should be considered in AIP patients with CFTR variants. 25869325 2015
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia 		0.020 Biomarker disease BEFREE Results of this year's investigations further elucidated the genetic associations of tropical pancreatitis, a reversible mislocalization of ductal CFTR in AIP, the association of asymptomatic pancreatic hyperenzymemia with pancreatic disorders, limitations of diagnostic tests for EPI, diagnosis of chronic pancreatitis by EUS and endoscopic pancreatic function testing and treatment of pain. 21844753 2011
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia 		0.020 GeneticVariation disease BEFREE CFTR variants are associated with AIP.Because AIP patients with CFTR variants show slower and reduced steroid treatment responses, different treatments should be considered in AIP patients with CFTR variants. 25869325 2015
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 Biomarker disease BEFREE Our previous studies have demonstrated that a previously unrecognized role of CFTR in hematopoiesis and acute leukemia. 31541940 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 AlteredExpression disease BEFREE In conclusion, our results showed CFTR was highly expressed in Ph+ acute leukemia, which protected and maintained the continuous activation of BCR-ABL and the canonical Wnt/β-catenin signaling pathway by decreasing PP2A phosphatase activity. 28445932 2017
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.100 Biomarker disease BEFREE None of the patients who remained on CFTR modulators developed an episode of AP or required hospitalization for AP related abdominal pain during follow-up. 31611131 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.100 GeneticVariation disease BEFREE Our prospective study adds further information about the frequency of CFTR mutations in patients with a single episode of acute pancreatitis. 14576497 2003
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.100 GeneticVariation disease BEFREE CFTR IVS8 Poly-T Variation Affects Severity of Acute Pancreatitis in Women. 30132293 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.100 GeneticVariation disease BEFREE Cystic fibrosis presenting as acute pancreatitis and obstructive azoospermia in a young adult male with a novel mutation in the CFTR gene. 12422349 2002
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.100 GeneticVariation disease BEFREE Patients sharing the same CFTR genotype may or may not experience AP episodes. 27086061 2017
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.100 GeneticVariation disease BEFREE The aim of this study was to investigate the association of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) gene mutations and monocyte chemoattractant protein 1 (MCP-1) -2518A/G polymorphism with acute pancreatitis (AP), acute recurrent pancreatitis (ARP), and chronic pancreatitis (CP), and to associate genetic backgrounds with clinical phenotype in these three conditions. 19844201 2010
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.100 GeneticVariation disease BEFREE CFTR mutations and SPINK-1 polymorphisms are frequent among HIV-positive patients suffering from acute pancreatitis. 15238770 2004
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.100 Biomarker disease BEFREE We applied an individualized combination of standardized and new CFTR functional bioassays for a patient referred to the Verona CF Center for evaluation after several episodes of acute pancreatitis. 31799301 2019