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GENE - TERM ANNOTATION REPORT

RGD ID: 11882255
Species: Pan paniscus
RGD Object: Gene
Symbol: KRIT1
Name: KRIT1 ankyrin repeat containing
Acc ID: DOID:483
Term: cavernous hemangioma
Definition: A vascular anomaly that is a collection of tortuous BLOOD VESSELS and connective tissue. This tumor-like mass with the large vascular space is filled with blood and usually appears as a strawberry-like lesion in the subcutaneous areas of the face, extremities, or other regions of the body including the central nervous system.
Definition Source(s): MESH:D006392
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)
KRIT1 ISOKRIT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cavernous hemangiomaPMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25741868 PMID:28492532
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