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GENE - TERM ANNOTATION REPORT

RGD ID: 1347884
Species: Homo sapiens
RGD Object: Gene
Symbol: SOX3
Name: SRY-box transcription factor 3
Acc ID: HP:0000486
Term: Strabismus
Definition: A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:26319345
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)
SOX3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Squint eyes

PMID:23757202 PMID:25741868 PMID:28492532
SOX3 IAGP 8699517HPO ORPHA:3157
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