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GENE - TERM ANNOTATION REPORT

RGD ID: 3258
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pax6
Name: paired box 6
Acc ID: DOID:12270
Term: coloboma
Definition: An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Coloboma "DO" "DO", http://ghr.nlm.nih.gov/condition/coloboma "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)
Pax6 ISOPAX6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pax6 ISOPAX6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma | ClinVar Annotator: match by term: Coloboma, ocular, autosomal dominantPMID:10234503 PMID:11929848 PMID:1251879 PMID:12634864 PMID:12721955 PMID:14561779 PMID:15846561 PMID:1684738 PMID:17406642 PMID:18483559 PMID:1954207 PMID:19876904 PMID:22692063 PMID:25741868 PMID:26130484 PMID:26661695 PMID:28321846 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31700164 PMID:34415986 PMID:6988567
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