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: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678 2010
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117 2010
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539 2010
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. 20150177 2010
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883 2011
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884 2012
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.810 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.810 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289 2014
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130 2014
dbSNP: rs397508276
rs397508276
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758 2015