GBA gene mutation

GPTKB entity

Statements (18)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects gptkb:GBA_gene
gptkbp:associatedWith gptkb:Parkinson's_disease
gptkb:Gaucher_disease
gptkbp:cause gptkb:glucocerebrosidase_deficiency
gptkb:anemia
hepatosplenomegaly
lysosomal storage disorder
thrombocytopenia
bone abnormalities
gptkbp:detects genetic testing
https://www.w3.org/2000/01/rdf-schema#label GBA gene mutation
gptkbp:inheritsFrom autosomal recessive
gptkbp:riskFactor Lewy body dementia
gptkbp:treatment enzyme replacement therapy
substrate reduction therapy
gptkbp:bfsParent gptkb:Lewy_body_disease
gptkbp:bfsLayer 6