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GENE - TERM ANNOTATION REPORT

CRRD ID: 1352437
Species: Homo sapiens
CRRD Object: Gene
Symbol: BRK1
Name: BRICK1 subunit of SCAR/WAVE actin nucleating complex
Acc ID: DOID:14175
Term: von Hippel-Lindau disease
Definition: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.
Definition Source(s): MESH:D006623
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGPRGD:134932938554872ClinVarClinVar Annotator: match by term: Von Hippel-Lindau syndrome

PMID:10567493, PMID:10830910, PMID:17537157, PMID:20567917, PMID:28492532, PMID:8634692
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.