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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:0050562
Term: West syndrome
Definition: An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/west-syndrome/ "DO" "DO", PMID:24268986 "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: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndromePMID:18414213 PMID:20887364 PMID:21193638 PMID:22612257 PMID:23934111 PMID:24781210 PMID:25326390 PMID:25356970 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26795593 PMID:26865513 PMID:26993267 PMID:27779742 PMID:28492532 PMID:29186148 PMID:29264391 PMID:30174244 PMID:30185235 PMID:30266908 PMID:30540253 PMID:30842647 PMID:31221716 PMID:31474318 PMID:32112430 PMID:32643187
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