CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Cystic Fibrosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. 29805046 2018
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators. 30046002 2018
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. 28603918 2017
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis. 27171515 2016
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Our study supports that compound heterozygosis ∆F508-R1438W/Y1032C is a 'cystic fibrosis-causing genotype' characterized by an immunoreactive trypsinogen positive screening, abnormal sweat chloride testing, and pancreatic sufficiency, with an increased risk of acute pancreatitis at an early age. 23883480 2013
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337 2011
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome. 21538969 2011
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? 20059485 2010
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis. 19318035 2009
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Renal involvement in cystic fibrosis: diseases spectrum and clinical relevance. 19406970 2009
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. 17329263 2007
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns. 16801189 2006
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population. 12133923 2002
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models. 11504857 2001
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 CausalMutation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157 1997
dbSNP: rs144055758
rs144055758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.700 GeneticVariation CLINVAR