CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst
0.400 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst
0.400 Biomarker disease HPO