Statements (13)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:aminoAcidChange |
glycine to aspartic acid at position 551
|
gptkbp:associatedWith |
cystic fibrosis
|
gptkbp:frequency |
rare
|
https://www.w3.org/2000/01/rdf-schema#label |
G551D mutation in CFTR
|
gptkbp:impairsFunction |
chloride channel
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:mutationAssociatedWith |
missense mutation
|
gptkbp:regulates |
gptkb:CFTR
|
gptkbp:respondsToDrug |
gptkb:ivacaftor
|
gptkbp:significance |
pathogenic
|
gptkbp:bfsParent |
gptkb:ivacaftor
|
gptkbp:bfsLayer |
7
|