CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens. 24559724 2014
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. 9683582 1998
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Detection of CFTR mutations using temporal temperature gradient gel electrophoresis. 15300780 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. 9259197 1997
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. 17662673 2008
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. 9254864 1997
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. 7691345 1993
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Heterogeneity in hereditary pancreatitis. 9557894 1998
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. 15333598 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane. 10425036 1999
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype. 15776432 2005
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR CFTR2: How will it help care? 23466340 2013
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories. 8680406 1995
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. 1283149 1992
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. 7680769 1993
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis. 17495464 2007
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. 20021716 2009
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Exogenous and endogenous determinants of vitamin K status in cystic fibrosis. 26160248 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan. 19652440 2009
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. 9259194 1997
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. 11168024 2001
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. 20949073 2010
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator. 10764788 2000
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578 2008