Properties (11)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic mutation
|
| gptkbp:associatedWith |
neurodegeneration
|
| gptkbp:causedBy |
gptkb:Tay-Sachs_disease
|
| gptkbp:firstClaim |
1969
|
| https://www.w3.org/2000/01/rdf-schema#label |
mutation in the HEXA gene
|
| gptkbp:impact |
hexosaminidase A enzyme
|
| gptkbp:is_featured_in |
gptkb:Ashkenazi_Jewish_population
|
| gptkbp:locatedIn |
chromosome 15
|
| gptkbp:resultedIn |
GM2 gangliosidosis
|
| gptkbp:safetyFeatures |
autosomal recessive inheritance
|
| gptkbp:screenings |
carrier testing
|