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GENE - TERM ANNOTATION REPORT

RGD ID: 12685447
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pax6
Name: paired box 6
Acc ID: DOID:11975
Term: coloboma of optic nerve
Definition: null
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)7240710OMIM  
Pax6 ISOPAX6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nervePMID:10234503 PMID:12634864 PMID:12721955 PMID:18483559 PMID:22692063 PMID:25741868 PMID:26661695 PMID:28321846 PMID:28492532
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