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GENE - TERM ANNOTATION REPORT

RGD ID: 2029
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Acvrl1
Name: activin A receptor like type 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)
Acvrl1 ISOACVRL1 (Homo sapiens)1300352RGD  
Acvrl1 ISOACVRL1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:20135064
Acvrl1 ISOACVRL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasiaPMID:16705692 PMID:21158752 PMID:25637381 PMID:25741868 PMID:26176610 PMID:28166811 PMID:28492532
Acvrl1 ISSAcvrl1 (Mus musculus)13592920MouseDOOMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506 
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