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GENE - TERM ANNOTATION REPORT

RGD ID: 3851
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tgfb3
Name: transforming growth factor, beta 3
Acc ID: DOID:0110070
Term: arrhythmogenic right ventricular dysplasia 1
Definition: An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15639475 "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)
Tgfb3 ISOTGFB3 (Homo sapiens)7240710OMIM  
Tgfb3 ISOTGFB3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Tgfb3 ISOTGFB3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1PMID:12529708 PMID:15639475 PMID:16199547 PMID:23824657 PMID:23861362 PMID:24798638 PMID:25741868 PMID:25835445 PMID:26184463 PMID:26188975 PMID:28087566 PMID:28166282 PMID:28492532 PMID:29109152 PMID:29247119 PMID:29392890 PMID:29551499 PMID:29907982 PMID:30675029 PMID:31898322 PMID:32746448 PMID:32897753 PMID:36973604
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