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GENE - TERM ANNOTATION REPORT

RGD ID: 18552397
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: RASA1
Name: RAS p21 protein activator 1
Acc ID: DOID:1270
Term: hereditary hemorrhagic telangiectasia
Definition: A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia "DO" "DO", http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1351/ "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)
RASA1 ISORASA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasiaPMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 PMID:29891884
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