ETV6-RUNX1 Fusion Protein Expression

Preferred Label : ETV6-RUNX1 Fusion Protein Expression;

NCIt synonyms : ETV6/RUNX1 Fusion Protein Expression; ETV6-CBFalpha2 Fusion Protein Expression; TEL-AML1 Fusion Protein Expression; TEL/AML1 Fusion Protein Expression;

NCIt definition : Expression of a fusion protein containing the helix-loop-helix domain encoded by the human ETV6 gene and the DNA-binding and transactivation domains encoded by the human RUNX1 gene as a result of a t(12;21)(p13; q22) translocation.;

Details

Origin ID

C37227;

UMLS CUI

C1515155;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- B Acute Lymphoblastic Leukemia with t(12;21)(p13.2;q22.1); ETV6-RUNX1 [NCIt concept]
is_not_molecular_abnormality_of_disease
- B Acute Lymphoblastic Leukemia with ETV6-RUNX1-Like Features [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with ETV6-RUNX1-Like Features [NCIt concept]
molecular_abnormality_involves_gene
- ETV6 Gene [NCIt concept]
- ETV6/RUNX1 Fusion Gene [NCIt concept]
- RUNX1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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