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GENE - TERM ANNOTATION REPORT

RGD ID: 1561903
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tmem270
Name: transmembrane protein 270
Acc ID: DOID:1929
Term: supravalvular aortic stenosis
Definition: An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis "DO" "DO", https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis "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)
Tmem270 ISOTMEM270 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Supravalvar aortic stenosisPMID:10627943 PMID:11175284 PMID:25205790 PMID:28277377 PMID:28492532 PMID:7557968 PMID:7611295 PMID:7726172 PMID:8968740
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