Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.700 Biomarker disease CTD_human
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
0.600 Biomarker disease MGD
Entrez Id: 2212
Gene Symbol: FCGR2A
FCGR2A
0.310 Biomarker disease CTD_human
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 SusceptibilityMutation disease CLINVAR
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.200 SusceptibilityMutation disease CLINVAR
Entrez Id: 3077
Gene Symbol: HFE
HFE
0.160 SusceptibilityMutation disease CLINVAR
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease CLINVAR β-adrenergic sweat secretion as a diagnostic test for cystic fibrosis. 22859523 2012
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE <b>Introduction</b>: Cystic fibrosis (CF) is the most frequent lethal orphan disease and is caused by mutations in the CFTR gene. 31169041 2019
Entrez Id: 2813
Gene Symbol: GP2
GP2
0.010 Biomarker disease BEFREE <b>Methods:</b> GP2 isoforms were stably expressed as glycosylphosphatidyl - inositol-anchored molecules in the membrane of HEp-2 cells and used as autoantigenic targets in indirect immunofluorescence assay (IFA). aGP2<sub>1-4</sub> IgA and IgG were detected by IFA in 212 PSC patients of four European university hospitals and 145 controls comprising 95 patients with cystic fibrosis and 50 healthy subjects. 30233574 2018
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.100 Biomarker disease BEFREE <i>In vitro</i> studies demonstrated that exposure of the apical face of polarized intestinal cell lines to <i>Bacteroides</i> species supernatants significantly reduced production of interleukin 8 (IL-8), suggesting a mechanism whereby changes in the intestinal microbiota could impact inflammation in CF. 31209076 2019
Entrez Id: 54498
Gene Symbol: SMOX
SMOX
0.100 Biomarker disease BEFREE <i>Pseudomonas aeruginosa</i> is an opportunistic pathogen found ubiquitously in the environment and commonly associated with airway infection in patients with cystic fibrosis.<i>P. aeruginosa</i> strain PAO1 is one of the most commonly used laboratory-adapted research strains and is a standard laboratory-adapted strain in multiple laboratories and strain banks worldwide. 30530517 2019
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
0.100 Biomarker disease BEFREE <i>Pseudomonas</i> on BAL was associated with positive neutrophil elastase (OR 4.17, 95% CI 2.04-8.53; p<0.001), increased interleukin-8 (p<0.001), increased all baseline PRAGMA computed tomography scores (p<0.001), progression of PRAGMA computed tomography scores (p<0.05) and increased risk of respiratory exacerbations (incidence rate ratio 2.11, 95% CI 1.15-3.87; p=0.017).In children with CF OPSs only marginally change the probability of detecting lower airway <i>Pseudomonas</i> and are not associated with lung disease indices nor exacerbations risk. 29678944 2018
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.100 Biomarker disease BEFREE <i>Pseudomonas</i> on BAL was associated with positive neutrophil elastase (OR 4.17, 95% CI 2.04-8.53; p<0.001), increased interleukin-8 (p<0.001), increased all baseline PRAGMA computed tomography scores (p<0.001), progression of PRAGMA computed tomography scores (p<0.05) and increased risk of respiratory exacerbations (incidence rate ratio 2.11, 95% CI 1.15-3.87; p=0.017).In children with CF OPSs only marginally change the probability of detecting lower airway <i>Pseudomonas</i> and are not associated with lung disease indices nor exacerbations risk. 29678944 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE <i>Staphylococcus aureus</i> plays an important role in sepsis, pneumonia, wound infections, and cystic fibrosis (CF), which is caused by mutations of the cystic fibrosis transmembrane conductance regulator (<i>Cftr</i>).Pulmonary <i>S. aureus</i> infections in CF often occur very early and prior to colonization with other pathogens, in particular <i>Pseudomonas aeruginosa</i> Here, we demonstrate that CF mice are highly susceptible to pulmonary infections with <i>S. aureus</i> and fail to clear the pathogen during infection.<i>S. aureus</i> is internalized by <i>Cftr</i>-deficient macrophages in the lung, but these macrophages are unable to kill intracellular bacteria. 28289144 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE <p>Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (<italic>CFTR</italic>) gene lead to cystic fibrosis (CF). 31590401 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 CausalMutation disease CLINVAR 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. 11737931 2001
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
0.020 GeneticVariation disease BEFREE (b) Three intragenic SNP-SNP interactions, SFTPB (rs2077079, rs3024798), and SFTPA1 (rs1136451, rs1059057 and rs4253527), associated with CF. 30333828 2018
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.040 GeneticVariation disease BEFREE (b) Three intragenic SNP-SNP interactions, SFTPB (rs2077079, rs3024798), and SFTPA1 (rs1136451, rs1059057 and rs4253527), associated with CF. 30333828 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE - Cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR), which accounts for the cAMP-regulated chloride conductance of airway epithelial cells. 9922383 1999
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.060 AlteredExpression disease BEFREE 118-130) may represent specific changes in response to the selective conditions within the oxygen-restricted CF mucus, we determined the expression of a set of genes during aerobic and hypoxic growth in LB and the artificial sputum medium ASM. 25130702 2014
Entrez Id: 283120
Gene Symbol: H19
H19
0.010 AlteredExpression disease BEFREE 118-130) may represent specific changes in response to the selective conditions within the oxygen-restricted CF mucus, we determined the expression of a set of genes during aerobic and hypoxic growth in LB and the artificial sputum medium ASM. 25130702 2014
Entrez Id: 3475
Gene Symbol: IFRD1
IFRD1
0.030 Biomarker disease BEFREE 12-O-tetradecanoyl phorbol-13-acetate-induced sequence 7/interferon related development regulator 1 (Tis7/IFRD1) has been recently identified as a modifier gene in lung inflammatory disease severity in patients with cystic fibrosis (CF), based upon its capacity to regulate inflammatory activities in neutrophils. 21723850 2011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 Biomarker disease BEFREE 17 individuals who are homozygous for deletions, missense, stop or splice site mutations in the CFTR gene were investigated for clinical symptoms of CF and assessed in CFTR function by sweat test, nasal potential difference and intestinal current measurement. 18178635 2008