CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Hypochloremic alkalosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151476
Disease: Hypochloremic alkalosis
Hypochloremic alkalosis 		0.010 GeneticVariation disease BEFREE S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein. 29298718 2018