CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Bone Cysts, Aneurysmal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal 		0.010 GeneticVariation disease BEFREE The molecular pathology of mutant F508del CFTR is partially corrected in vitro by the secondary amino acid substitution R553Q in the ABC signature motif. 19176844 2009