Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker BEFREE Cystic Fibrosis of the Pancreas: The Role of CFTR Channel in the Regulation of Intracellular Ca<sup>2+</sup> Signaling and Mitochondrial Function in the Exocrine Pancreas. 30618777

2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Cystic fibrosis transmembrane regulator potentiators as promising cystic fibrosis therapies. 21303308

2011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Probing conformational rescue induced by a chemical corrector of F508del-cystic fibrosis transmembrane conductance regulator (CFTR) mutant. 21602569

2011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. 21083385

2010
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. 19309154

2009
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. 19846789

2009
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Proteasome-dependent pharmacological rescue of cystic fibrosis transmembrane conductance regulator revealed by mutation of glycine 622. 18230692

2008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker BEFREE CFTR gene transfer to human cystic fibrosis pancreatic duct cells using a Sendai virus vector. 17654517

2008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Restoration of W1282X CFTR activity by enhanced expression. 17541014

2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. 17347447

2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. 17290305

2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. 16463024

2006
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Cystic fibrosis in 65- and 67-year-old siblings. Clinical feature and nasal potential difference measurement in patients with genotypes F508del and 2789+5G-->A. 16763370

2006
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker BEFREE Expression of a wild-type CFTR maintains the integrity of the biosynthetic/secretory pathway in human cystic fibrosis pancreatic duct cells. 15956032

2005
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Correction of CFTR malfunction and stimulation of Ca-activated Cl channels restore HCO3- secretion in cystic fibrosis bile ductular cells. 11786964

2002
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. 11401894

2001
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human A mouse model for the delta F508 allele of cystic fibrosis. 7560099

1995
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.330 Biomarker CTD_human Functional insertion of the SV40 large T oncogene in cystic fibrosis intestinal epithelium. Characterization of CFI-3 cells. 1718974

1991