Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 Biomarker phenotype 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
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 GeneticVariation phenotype BEFREE CF-like disease has been reported in a heterozygous carrier of F508del CFTR and the hyperactive variant p.W493R-SCNN1A of the epithelial sodium channel (ENaC). 21917531 2012