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GENE - TERM ANNOTATION REPORT

RGD ID: 8712078
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Ccm2
Name: CCM2 scaffold protein
Acc ID: DOID:0060669
Term: cerebral cavernous malformation
Definition: A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO)
Definition Source(s): http://hmg.oxfordjournals.org/content/18/5/919.long "DO" "DO", https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation "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)
Ccm2 ISOCCM2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebral cavernous malformationPMID:25525273 PMID:25741868 PMID:28492532
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