Source: CLINVAR

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 CausalMutation CLINVAR Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. 7513293

1994
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? 15287992

2004
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation 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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. 20021716

2009
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. 25066652

2014
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. 15365999

2004
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient. 8844211

1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels. 10762539

2000
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation 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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. 1284534

1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis. 21811577

2011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR Hypercalciuria and nephrocalcinosis in cystic fibrosis patients. 15074370

2004
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR Extensive molecular analysis of patients bearing CFTR-related disorders. 22020151

2012
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and deltaF508. 11491162

2001
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. 15480987

2004
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. 7541510

1995
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains. 1382316

1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation. 15141088

2004
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. 24586523

2014
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. 10777364

2000
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation CLINVAR Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation. 15371908

2005
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR Corrector-mediated rescue of misprocessed CFTR mutants can be reduced by the P-glycoprotein drug pump. 22138447

2012
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. 7683628

1993
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces. 18597042

2008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation CLINVAR Detection of CFTR mutations using temporal temperature gradient gel electrophoresis. 15300780

2004