CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Disease: Bone Diseases ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.020 GeneticVariation group BEFREE Despite the increasing understanding of CFTR functioning, several aspects of CF need still to be clarified, e.g., the worse outcome in females, the risk of malignancies, the pathophysiology, and best treatment of comorbidities, such as CF-related diabetes or CF-related bone disorder. 27709245 2017
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.020 GeneticVariation group BEFREE The exact role of the cystic fibrosis transmembrane conductance regulator (CFTR), specifically the ΔF508 allele, has been investigated in F508del-CFTR homozygous mice and the F508del-CFTR mutation may contribute to CF-related bone disease by slowing new bone formation. 24060979 2013