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GENE - TERM ANNOTATION REPORT

RGD ID: 1565646
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sox2
Name: SRY-box transcription factor 2
Acc ID: DOID:0060857
Term: septooptic dysplasia
Definition: A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8696006 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9620767 "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)
Sox2 ISOSOX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Septo-optic dysplasia sequencePMID:16283891 PMID:16892407 PMID:16932809 PMID:18285410 PMID:18831064 PMID:24804704 PMID:25741868 PMID:26250054 PMID:27206652 PMID:28492532 PMID:35885948
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