Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:aminoAcidChange |
glycine to aspartic acid at position 551
|
| gptkbp:associatedWith |
cystic fibrosis
|
| gptkbp:frequency |
rare
|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
G551D mutation in CFTR
|