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GENE - TERM ANNOTATION REPORT

RGD ID: 12733278
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Tbx5
Name: T-box transcription factor 5
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
Tbx5 ISOTBX5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:10077612 PMID:12789647 PMID:14402857 PMID:15710732 PMID:16183809 PMID:16917909 PMID:17534187 PMID:2070544 PMID:25680289 PMID:25741868 PMID:28492532 PMID:8911604 PMID:8988164
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