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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: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.
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