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GENE - TERM ANNOTATION REPORT

RGD ID: 13907463
Species: Sus scrofa
RGD Object: Gene
Symbol: PAX6
Name: paired box 6
Acc ID: DOID:9003133
Term: Hypertelorism
Definition: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
Definition Source(s): MESH:D006972
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)
PAX6 ISOPAX6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HypertelorismPMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 PMID:25741868 PMID:27431685 PMID:28321846 PMID:28492532 PMID:29618921
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