Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Sec16A is critical for both conventional and unconventional secretion of CFTR. 28067262

2017

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Here, we investigated the impact of these compounds on the instability of F508del-CFTR, the most common CF mutation. 28087700

2017

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) result in the disease cystic fibrosis. 28001373

2017

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT In the current study, we investigated the mechanism responsible for the gating defects manifested in R117H-CFTR, an arginine-to-histidine substitution at position 117 of CFTR that is associated with mild forms of CF. 26846474

2016

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Rattlesnake Phospholipase A2 Increases CFTR-Chloride Channel Current and Corrects ∆F508CFTR Dysfunction: Impact in Cystic Fibrosis. 27241308

2016

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT The major cystic fibrosis causing mutation, F508del-CFTR (where CFTR is cystic fibrosis transmembrane conductance regulator), impairs biosynthetic maturation of the CFTR protein, limiting its expression as a phosphorylation-dependent channel on the cell surface. 25330774

2015

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker GENOMICS_ENGLAND CFTR compound heterozygous status with variant classes CF-causing severe and mild represented an OR of 16.1 (p<0.0001). 22427236

2013

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GermlineCausalMutation ORPHANET The most common CF-causing mutation, ΔF508-CFTR, produces CFTR loss-of-function by impairing its cellular targeting to the plasma membrane and its chloride channel gating. 22214395

2012

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker CTD_human Several types of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene lead to abnormal CFTR protein and alterations of chloride and sodium transmembrane transportation in cystic fibrosis (CF). 21303308

2011

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker CTD_human Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that cause loss of function of the CFTR channel on the apical surface of epithelial cells. 21602569

2011

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway. 21884936

2011

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Dysfunctions of the CFTR gene are responsible for the highly variable clinical presentation ranging from severe CF, disseminated bronchiectasis, idiopathic chronic pancreatitis and congenital bilateral absence of vas deferens (CBAVD). 20691141

2010

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker CTD_human We randomly assigned 39 adults with cystic fibrosis and at least one G551D-CFTR allele to receive oral VX-770 every 12 hours at a dose of 25, 75, or 150 mg or placebo for 14 days (in part 1 of the study) or VX-770 every 12 hours at a dose of 150 or 250 mg or placebo for 28 days (in part 2 of the study). 21083385

2010

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. 20150177

2010

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT The most common mutation in CF, DeltaF508 CFTR, was rescued from endoplasmic reticulum retention by low-temperature incubation but transited from the apical membrane to endocytic compartments more rapidly and recycled less efficiently than wild-type CFTR. 20008117

2010

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker CTD_human These results support the hypothesis that pharmacological agents that restore or increase CFTR function can rescue epithelial cell function in human CF airway. 19846789

2009

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker CTD_human To study the mechanism of action of several pharmacological chaperones benzo[c]quinolizinium (MPB), we analyzed their effects on two CF mutations; F508del-CFTR and G622D-CFTR. 18230692

2008

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker CTD_human Cystic fibrosis results from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 17541014

2007

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT I148T-CFTR has been associated with a severe CF phenotype, perhaps because of defects in its regulation of bicarbonate transport, but it transports chloride similarly to wild-type CFTR in model systems (Choi JY, Muallem D, Kiselyov K, Lee MG, Thomas PJ, Muallem S. Nature 410: 94-97, 2001). cRNAs encoding alphabetagamma-mENaC and I148T-CFTR were injected separately or together into Xenopus oocytes. mENaC and CFTR functional expression were assessed by two-electrode voltage clamp. mENaC whole oocyte expression was determined by immunoblotting, and surface expression was quantitated by surface biotinylation. 16822950

2007

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker CTD_human These results with first-generation suppressive agents suggest the need for improved drug delivery methods and/or more potent suppressors of nonsense mutations to confer CFTR correction in subjects with CF heterozygous for nonsense mutations. 17347447

2007

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC. 17182731

2007

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 GeneticVariation UNIPROT Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms. 17098864

2006

Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
1.000 Biomarker CTD_human Thirty-seven families with F508del-CFTR homozygous siblings exhibiting extreme clinical phenotypes that had been selected from the 467 pairs of the European CF Twin and Sibling Study were genotyped at 12p13 and 16p12 markers. 16463024

2006