Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:SNCA
|
| gptkbp:associatedWith |
gptkb:Parkinson's_disease
gptkb:dementia_with_Lewy_bodies |
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
gptkb:alpha-synuclein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000145335
|
| gptkbp:expressedIn |
brain
|
| gptkbp:firstMutationIdentified |
gptkb:A53T
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
11138
|
| https://www.w3.org/2000/01/rdf-schema#label |
PARK1
|
| gptkbp:involvedIn |
synaptic function
|
| gptkbp:locatedOnChromosome |
4q22.1
|
| gptkbp:mutationAssociatedWith |
gptkb:familial_Parkinson's_disease
missense |
| gptkbp:OMIM |
163890
|
| gptkbp:orthologInMouse |
gptkb:Snca
|
| gptkbp:product |
gptkb:alpha-synuclein
|
| gptkbp:relatedTo |
Lewy bodies
|
| gptkbp:UniProtID |
gptkb:P37840
|
| gptkbp:bfsParent |
gptkb:alpha-synuclein
gptkb:SNCA |
| gptkbp:bfsLayer |
7
|