FOXI1, forkhead box I1, 2299

N. diseases: 42; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.020 GeneticVariation disease BEFREE Finally, we identified a novel, rare cell type that we call the 'pulmonary ionocyte', which co-expresses FOXI1, multiple subunits of the vacuolar-type H<sup>+</sup>-ATPase (V-ATPase) and CFTR, the gene that is mutated in cystic fibrosis. 30069046 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.020 AlteredExpression disease BEFREE Knockout of Foxi1 in mouse ionocytes causes loss of Cftr expression and disrupts airway fluid and mucus physiology, phenotypes that are characteristic of cystic fibrosis. 30069044 2018