Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 5134098
Species: Homo sapiens
RGD Object: Gene
Symbol: MIR219B
Name: microRNA 219b
Acc ID: DOID:0050709
Term: early infantile epileptic encephalopathy
Definition: A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Ohtahara_syndrome "DO" "DO", http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm "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)
MIR219B IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathyPMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935
Go Back to source page   Continue to Ontology report