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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:0060474
Term: familial erythrocytosis 2
Definition: A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15725900
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: Erythrocytosis, familial, 2

PMID:10567493, PMID:10830910, PMID:17537157, PMID:20567917, PMID:28492532, PMID:8634692
 IAGPRGD:138194078554872ClinVarClinVar Annotator: match by term: Erythrocytosis, familial, 2

PMID:28492532
 IAGPRGD:147024238554872ClinVarClinVar Annotator: match by term: Erythrocytosis, familial, 2

PMID:28492532
 IAGPRGD:147182058554872ClinVarClinVar Annotator: match by term: Erythrocytosis, familial, 2

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