Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 Biomarker disease BEFREE Heterozygous variants in CFTR, SCNN1A, and SCNN1B genes associated with cystic fibrosis (CF) or CF-like disease were detected in four of our nine patients. 29058463 2017
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 Biomarker disease BEFREE Epithelial sodium channel (ENaC, Scnn1) hyperactivity in the lung leads to airway surface dehydration and mucus accumulation in cystic fibrosis (CF) patients and in mice with CF-like lung disease. 28539224 2017
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 GeneticVariation disease BEFREE Sequencing of the SCNN1A, B, and G genes was performed and variants assessed for pathogenicity and association with CF using databases, protein and splice site mutation analysis software, and literature review. 25900089 2016
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 GeneticVariation disease BEFREE The terms used in the literature search were: (1) ENaCs; cystic fibrosis (CF) transmembrane conductance regulator (CFTR); asthma/asthmatic, (2) ENaC/sodium salt; CF; asthma/asthmatic, (3) CFTR/chlorine ion channels; asthma/asthmatic, (4) ENaC/sodium channel/scnn1a/scnn1b/scnn1g/scnn1d/amiloride-sensitive/amiloride-inhibtable sodium channels/sodium salt; asthma/asthmatic, lung/pulmonary/respiratory/tracheal/alveolar, and (5) CFTR; CF; asthma/asthmatic (ti). 26265620 2015
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 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: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 GeneticVariation disease BEFREE We assessed the influence of genetic variation of SCNN1A on the diffusing capacity of the lungs for carbon monoxide (DLCO) and nitric oxide (DLNO), together with alveolar-capillary membrane conductance (DM), pulmonary capillary blood volume, and alveolar volume (VA) at rest and during peak exercise in 18 patients with CF (10 homozygous for αA663 (AA group) and 8 with at least one T663 allele (AT/TT group)). 22776878 2012
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 Biomarker disease CTD_human Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. 19462466 2009
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 Biomarker disease BEFREE The CFTR gene was first analyzed in all patients by denaturing high-performance liquid chromatography followed by direct sequencing; whereas, the sodium channel non-voltage-gated 1 alpha (SCNN1A), sodium channel non-voltage-gated 1 beta (SCNN1B), and sodium channel non-voltage-gated 1 gamma (SCNN1G) subunits of the ENaC gene were analyzed by sequencing in the five patients who carried only one CF mutation. 19017867 2009
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 AlteredExpression disease LHGDN Upregulated expression of ENaC in human CF nasal epithelium. 17766193 2008
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 Biomarker disease BEFREE The prime candidates for genetic modifiers in CF are elements of host defence such as the TNFalpha receptor and of ion transport such as the amiloride-sensitive epithelial sodium channel ENaC, both of which are encoded side by side on 12p13 (TNFRSF1A, SCNN1A) and 16p12 (SCNN1B, SCNN1G). 16463024 2006
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.390 Biomarker disease CTD_human Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice. 15077107 2004