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GENE - TERM ANNOTATION REPORT

RGD ID: 3628
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Stmn3
Name: stathmin 3
Acc ID: DOID:0112202
Term: developmental and epileptic encephalopathy
Definition: An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28276062/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31926847/ "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)
Stmn3 ISOSTMN3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathyPMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 PMID:23959892 PMID:24811917 PMID:25052858 PMID:25607374 PMID:25921748 PMID:27779742 PMID:28492532 PMID:29215089 PMID:30866059
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