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GENE - TERM ANNOTATION REPORT

RGD ID: 1619123
Species: Mus musculus
RGD Object: Gene
Symbol: Chst14
Name: carbohydrate sulfotransferase 14
Acc ID: DOID:14775
Term: brittle cornea syndrome 1
Definition: An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28306229/ "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)
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