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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:0111383
Term: autosomal dominant keratitis
Definition: A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7668281 "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)8551884RGDDNA:snp:exon:IVS10-2A>T (human) 
Pax6 ISOPAX6 (Homo sapiens)7240710OMIM  
Pax6 ISOPAX6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pax6 ISOPAX6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditaryPMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 PMID:18483559 PMID:18776953 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28492532 PMID:31161946 PMID:7627897 PMID:7668281 PMID:9727514
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