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GENE - TERM ANNOTATION REPORT

RGD ID: 12241528
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: STXBP1
Name: syntaxin binding protein 1
Acc ID: DOID:0050753
Term: cerebellar ataxia
Definition: A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cerebellar_ataxia "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
STXBP1 ISOSTXBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar ataxiaPMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 PMID:26865513 PMID:26918652 PMID:27159321 PMID:28135719 PMID:28492532
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