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 Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands. 30146269 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil. 30726326 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons. 29497617 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators. 30046002 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics. 28544683 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. 29805046 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients? 27086061 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles. 27738188 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR The population genetics of human disease: The case of recessive, lethal mutations. 28957316 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis. 26471113 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening. 28546993 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation. 29178639 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR A new insight into CFTR allele frequency in Brazil through next generation sequencing. 28771972 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients. 27717243 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. 28603918 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation 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 Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children. 26826884 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 26990548 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR CT-abnormalities, bacteriology and symptoms of sinonasal disease in children with Cystic Fibrosis. 27049043 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations. 25735457 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation 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 High ambient temperature and risk of intestinal obstruction in cystic fibrosis. 27145507 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study. 25674778 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas. 26631874 2016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants. 27022295 2016