cystic fibrosis with G551D mutation
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
digestive system
respiratory system |
| gptkbp:containsGene |
gptkb:CFTR
|
| gptkbp:hasDiagnosticMethod |
gptkb:sweat_chloride_test
genetic testing |
| https://www.w3.org/2000/01/rdf-schema#label |
cystic fibrosis with G551D mutation
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:CFTR_gene
gptkb:G551D |
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
chronic cough
pancreatic insufficiency recurrent lung infections salty sweat |
| gptkbp:treatment |
gptkb:ivacaftor
|
| gptkbp:bfsParent |
gptkb:VX-770
|
| gptkbp:bfsLayer |
7
|