CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004030
Disease: Aspergillosis
Aspergillosis
0.010 GeneticVariation disease BEFREE Unusual clinical features including a severe outcome in childhood, with a lethal outcome at age 22, and biliary aspergillosis were recorded in patients with a CFTR mutation. 12127423 2002