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GENE - TERM ANNOTATION REPORT

CRRD ID: 9009966
Species: Chinchilla lanigera
CRRD Object: Gene
Symbol: Palb2
Name: partner and localizer of BRCA2
Acc ID: DOID:0080645
Term: B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1
Definition: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. (DO)
Definition Source(s): url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343 "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)
Palb2 ISORGD:110900219068941ClinVarClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12, 21)(p13.2, q22.1), ETV6-RUNX1

PMID:25741868, 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.