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GENE - TERM ANNOTATION REPORT

RGD ID: 620148
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sf3b1
Name: splicing factor 3b, subunit 1
Acc ID: DOID:9002227
Term: B-Cell Chronic Lymphocytic Leukemia
Definition: A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.
Definition Source(s): MESH:D015451
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)
Sf3b1 ISOSF3B1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:22158541
Sf3b1 ISOSF3B1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronicPMID:23634996 PMID:25741868 PMID:26619011
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