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GENE - TERM ANNOTATION REPORT

RGD ID: 1319719
Species: Homo sapiens
RGD Object: Gene
Symbol: TBX20
Name: T-box transcription factor 20
Acc ID: DOID:0110109
Term: atrial heart septal defect 4
Definition: An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17668378 "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)
TBX20 IAGP 7240710OMIM  
TBX20 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
TBX20 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4 | ClinVar Annotator: match by term: TBX20-related conditionPMID:25741868 PMID:28492532
TBX20 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4PMID:19074289 PMID:25741868 PMID:28492532 PMID:29089047
TBX20 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4PMID:28492532
TBX20 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4 
TBX20 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 PMID:30820038
TBX20 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4 | ClinVar Annotator: match by term: TBX20-related conditionPMID:25741868
TBX20 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4PMID:18834961 PMID:25741868 PMID:27642787 PMID:28492532
TBX20 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4PMID:17668378 PMID:19762328 PMID:25741868 PMID:28492532 PMID:29517769
TBX20 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4PMID:17668378
TBX20 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 4PMID:19762328
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