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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:9003191
Term: Vascular Malformations
Definition: A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases.
Definition Source(s): MESH:D054079
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: Vascular malformationPMID:18363760 PMID:18446851 PMID:24038909 PMID:25040287 PMID:25741868 PMID:28492532 PMID:29891884
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