Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:SNCA_gene
|
| gptkbp:associatedWith |
gptkb:Parkinson's_disease
Lewy body dementia |
| gptkbp:cause |
gptkb:autosomal_dominant_Parkinson's_disease
gptkb:familial_Parkinson's_disease Lewy body formation alpha-synuclein aggregation |
| gptkbp:discoveredIn |
1997
|
| gptkbp:firstReported |
gptkb:Polymeropoulos_et_al.
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
SNCA gene mutation
|
| gptkbp:impact |
dopaminergic neurons
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
4q22.1
|
| gptkbp:mutationAssociatedWith |
gptkb:A30P
gptkb:A53T gptkb:E46K gptkb:G51D missense mutation H50Q gene duplication gene triplication |
| gptkbp:result |
abnormal alpha-synuclein protein
|
| gptkbp:studiedIn |
familial Parkinson's disease cases
|
| gptkbp:bfsParent |
gptkb:Lewy_body_disease
|
| gptkbp:bfsLayer |
6
|