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 Identification of the cystic fibrosis gene: genetic analysis. 2570460 1989
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. 2475911 1989
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. 2210768 1990
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR To determine whether other mutations occur in the NBFs of CFTR, we determined the nucleotide sequences of exons 9, 10, 11 and 12 (encoding the first NBF) and exons 20, 21 and 22 (encoding most of the second NBF) from 20 Caucasian and 18 American-black CF patients. 1695717 1990
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. 2236053 1990
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. 2344617 1990
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. 2344617 1990
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene. 1723056 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. 1944451 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). 1710600 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Two frameshift mutations in the cystic fibrosis gene. 1990834 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes. 1722350 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR A mutation in the second nucleotide binding fold of the cystic fibrosis gene. 1998343 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. 1709778 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR These findings are consistent with the observed uneven distribution of CFTR missense mutations between NBD1 and NBD2 of CF patients. 1712898 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis. 1903761 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. 1721624 1991
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR CFTR! 1381146 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene. 1373934 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR The spectrum of cystic fibrosis (CF) mutations was determined in 105 patients by using denaturing gradient gel electrophoresis to screen the entire coding regions and adjacent cystic fibrosis transmembrane conductance regulator (CFTR) gene sequences. 1379210 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. 1283149 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease CLINVAR Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. 1376017 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 CausalMutation disease CLINVAR Detection of over 98% cystic fibrosis mutations in a Celtic population. 1284639 1992