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GENE - TERM ANNOTATION REPORT

RGD ID: 12652426
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Znf687
Name: zinc finger protein 687
Acc ID: DOID:0081369
Term: Paget's disease of bone 6
Definition: A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26849110/ "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)
Znf687 ISOZNF687 (Homo sapiens)7240710OMIM  
Znf687 ISOZNF687 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Paget disease of bone 6PMID:15123951 PMID:22936311 PMID:25741868 PMID:26849110 PMID:28492532 PMID:29493781
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