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GENE - TERM ANNOTATION REPORT

RGD ID: 1306130
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ovol2
Name: ovo-like zinc finger 2
Acc ID: DOID:0060649
Term: congenital hereditary endothelial dystrophy of cornea
Definition: A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16767101
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)
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.