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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.020 AlteredExpression disease BEFREE The outcomes (eg, pain relief, narcotic use, β-cell function, health-related quality of life measures) of patients who received TP-IAT for HGP (protease trypsin 1, n = 38; serine protease inhibitor Kazal type 1, n = 9; cystic fibrosis transmembrane conductance regulator, n = 14; and familial, n = 19) were evaluated and compared with those with non-hereditary/nongenetic causes. 24655839 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.020 Biomarker disease BEFREE Some other genes, such as SPINK1 or CFTR, have been associated with familial idiopathic chronic pancreatitis. 19944211 2009