Disease: Cystic Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.060 GeneticVariation disease BEFREE Here, we have examined two disease-causing mutations in the NBD1 region of ABCA4, R1108C, and R1129C, which occur within regions of high similarity with CFTR, another ABC transporter gene, which is associated with cystic fibrosis. 26092729 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.060 GeneticVariation disease BEFREE In the present work we examined the stability and cellular processing of the Q141K ABCG2 variant, as well as that of the ΔF142 ABCG2, corresponding to the ΔF508 mutation in the CFTR (ABCC7) protein, causing cystic fibrosis. 23800412 2013
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.060 GeneticVariation disease BEFREE The cystic-fibrosis-associated ΔF508 mutation confers post-transcriptional destabilization on the C. elegans ABC transporter PGP-3. 22569626 2012
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.060 GeneticVariation disease BEFREE Cystic fibrosis (CF) is an inherited, life-threatening disease caused by mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR), an ABC transporter-class protein and ion channel that transports ions across epithelial cell membranes. 21050065 2010
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.060 Biomarker disease BEFREE Building an understanding of cystic fibrosis on the foundation of ABC transporter structures. 18080175 2007
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.060 GeneticVariation disease BEFREE Identification of molecular determinants that modulate trafficking of DeltaF508 CFTR, the mutant ABC transporter associated with cystic fibrosis. 15673927 2005