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GENE - TERM ANNOTATION REPORT

RGD ID: 3784
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Stx1b
Name: syntaxin 1B
Acc ID: DOID:0111301
Term: generalized epilepsy with febrile seizures plus 9
Definition: A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25362483 "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)
Stx1b ISOSTX1B (Homo sapiens)7240710OMIM  
Stx1b ISOSTX1B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Stx1b ISOSTX1B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GEFS+, TYPE 9 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9PMID:11591834 PMID:16199547 PMID:17576681 PMID:25362483 PMID:25741868 PMID:26467025 PMID:26818399 PMID:28166811 PMID:28492532 PMID:30737342 PMID:31273778 PMID:9536098
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