Gene: CFTR ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. 7581407 1995
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings. 7606851 1995
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Previously we identified three CF haplotypes defined by polymorphisms flanking the CF transmembrane conductance regulator (CFTR) gene. delta F508 was present on one of the haplotypes in only 35% of CF chromosomes. 7680525 1993
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease UNIPROT A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. 7683954 1993
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene. 8081395 1994
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518 1993
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). 8522333 1995
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693 1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients. 8723695 1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT We have studied a sample of 39 CF patients of Tunisian origin and have used a GC clamp DGGE assay to scan the CFTR gene. 8800923 1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633 1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT The gene mutated in cystic fibrosis codes for the cystic fibrosis transmembrane conductance regulator (CFTR), a cyclic AMP-activated chloride channel thought to be critical for salt and water transport by epithelial cells. 8910473 1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT In total, 30 CFTR mutations account for 93.9% of the 412 Northern Irish CF chromosomes tested. 8956039 1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140. 9101301 1997
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient. 9222768 1997
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients. 9375855 1997
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Cystic fibrosis mutation frequencies in upstate New York. 9401006 1997
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Cystic fibrosis transmembrane-conductance regulator mutations among African Americans. 9443874 1998
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients. 9452048 1998
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054 1998
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073 1998
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C). 9482579 1998
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). 9521595 1998
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		1.000 GeneticVariation disease UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753 1998