CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Malignant neoplasm of lung ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 Biomarker disease BEFREE It has been well-documented that mutations of CFTR gene are the cause of cystic fibrosis, the most common fatal hereditary lung disease in Caucasian population; the function of cystic fibrosis transmembrane conductance regulator in the development of lung cancer however has not yet been established. 30384810 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 AlteredExpression disease BEFREE These findings suggest that DNA methylation may be important for downregulation of CFTR gene expression in lung cancer. 21585618 2011
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 GeneticVariation disease BEFREE This study, for the first time, provides evidence of a protective role of the CFTR deletion carrier in the etiology of lung cancer. 20116881 2010
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 GeneticVariation disease BEFREE In this study, the deletion mutation of 508th amino acid in one of nine lung caner patients was found confirming that CFTR gene mutation exists in a Korean lung cancer patient. 11322483 2001