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GENE - TERM ANNOTATION REPORT

RGD ID: 2798
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hk3
Name: hexokinase 3
Acc ID: DOID:0080733
Term: Ehlers-Danlos syndrome dermatosparaxis type
Definition: An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. (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)
Hk3 ISOHK3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis typePMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145
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