CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Lung diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0024115
Disease:
Lung diseases 		0.020 GeneticVariation BEFREE Ivacaftor caused marked reductions in sputum P. aeruginosa density and airway inflammation and produced modest improvements in radiographic lung disease in subjects with G551D-CFTR mutations. 28222269 2017
dbSNP: rs75527207
rs75527207
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0024115
Disease:
Lung diseases 		0.020 GeneticVariation BEFREE Both G551D, a mutation that causes severe lung disease, and A455E, a mutation associated with mild lung disease, altered but did not abolish CFTR's function as a chloride channel in Xenopus oocytes. 7542778 1995