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GENE - TERM ANNOTATION REPORT

RGD ID: 11059
Species: Mus musculus
RGD Object: Gene
Symbol: Pax6
Name: paired box 6
Acc ID: DOID:0060673
Term: Peters anomaly
Definition: A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11403040 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12614756 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8162071 "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 IAGP 8551891RGDDNA:snp:cds:pN64K (mouse) 
Pax6 ISOPAX6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pax6 ISOPAX6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesisPMID:10234503 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12868034 PMID:15086958 PMID:15579687 PMID:16199547 PMID:17417613 PMID:18483559 PMID:18776953 PMID:20577777 PMID:22361317 PMID:22692063 PMID:24281366 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27878435 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31161946 PMID:31700164 PMID:32360764 PMID:32499604 PMID:34101622 PMID:34415986 PMID:8364574 PMID:9727514 PMID:9792406
Pax6 IAGP 13592920MouseDOOMIM:604229 
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