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GENE - TERM ANNOTATION REPORT

RGD ID: 14056200
Species: Sus scrofa
RGD Object: Gene
Symbol: SIX3
Name: SIX homeobox 3
Acc ID: DOID:9006637
Term: Schizencephaly
Definition: Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures. Some patients with schizencephaly have mutations in the EMX2, SIX3, or SHH genes.
Definition Source(s): MESH:D065707
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)
SIX3 ISOSIX3 (Homo sapiens)7240710OMIM  
SIX3 ISOSIX3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SchizencephalyPMID:18791198 PMID:19346217 PMID:20157829 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532
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