Statements (12)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:affects |
gptkb:alpha-synuclein
|
gptkbp:aminoAcidChange |
glycine to aspartic acid at position 51
|
gptkbp:associatedWith |
gptkb:Parkinson's_disease
gptkb:dementia parkinsonism |
gptkbp:discoveredIn |
2013
|
gptkbp:foundInGene |
gptkb:SNCA
|
gptkbp:hasMutationType |
missense mutation
|
https://www.w3.org/2000/01/rdf-schema#label |
G51D
|
gptkbp:bfsParent |
gptkb:SNCA_gene_mutation
|
gptkbp:bfsLayer |
7
|