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: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. 7524909 1994
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693 1996
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130 2014
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758 2015
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529 1992
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884 2012
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333 1995
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678 2010
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT 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
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation BEFREE The effects of the mild cystic fibrosis (CF) mutation P574H were analysed and compared with those of three severe ones (delta I507, delta F508 and R560T). 7540133 1995
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.820 GeneticVariation UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518 1993
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.820 CausalMutation CLINVAR Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland. 12815607 2003
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.820 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.820 CausalMutation CLINVAR Detection of over 98% cystic fibrosis mutations in a Celtic population. 1284639 1992
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.820 CausalMutation CLINVAR Distinct sputum cytokine profiles in cystic fibrosis and other chronic inflammatory airway disease. 10515411 1999
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.820 GeneticVariation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
dbSNP: rs80055610
rs80055610
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		C 0.820 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013