Statements (16)
Predicate | Object |
---|---|
gptkbp:instanceOf |
point mutation
|
gptkbp:aminoAcidChange |
arginine to histidine
|
gptkbp:associatedWith |
gptkb:acute_myeloid_leukemia
gptkb:rhabdomyosarcoma glioma |
gptkbp:codonPosition |
132
|
gptkbp:discoveredIn |
2008
|
gptkbp:foundIn |
gptkb:human
|
gptkbp:hasBiomarker |
glioma diagnosis
|
https://www.w3.org/2000/01/rdf-schema#label |
R132H (IDH1)
|
gptkbp:mutationAssociatedWith |
missense mutation
|
gptkbp:regulates |
gptkb:IDH1
|
gptkbp:result |
2-hydroxyglutarate accumulation
|
gptkbp:target |
IDH1 inhibitor therapy
|
gptkbp:bfsParent |
gptkb:IDH1/2_mutation
|
gptkbp:bfsLayer |
6
|