Gene: CFTR ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis. 27171515 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis. 27131402 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. 26708955 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Identification and frequencies of cystic fibrosis mutations in central Argentina. 26500004 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes. 25900089 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Correctors Rescue CFTR Mutations in Nucleotide-Binding Domain 1 (NBD1) by Modulating Proteostasis. 26864378 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus. 26014425 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis. 27264265 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes. 25443471 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Newborn Screening for Cystic Fibrosis in California. 26574590 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Exogenous and endogenous determinants of vitamin K status in cystic fibrosis. 26160248 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Clinical implications and characterization of Group A Streptoccoccus infections in adults with cystic fibrosis. 26651825 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices. 25192979 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine. 26208274 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Diagnostic Accuracy of a Short Endoscopic Secretin Test in Patients With Cystic Fibrosis. 26348465 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients. 25580864 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy. 25122143 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Mutation and new polymorphisms insight in introns 11 to 14a of CFTR gene of northern Iranian cystic fibrosis patients. 25824381 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients. 25580864 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation. 25799511 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis. 25569440 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics: Analysis of 30,769 Genotypes. 26146130 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis. 25910067 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Exogenous and endogenous determinants of vitamin K status in cystic fibrosis. 26160248 2015