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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:0000175
Term: Cleft palate
Definition: Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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: Cleft of palate

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