ETV6/MECOM Fusion Gene

Preferred Label : ETV6/MECOM Fusion Gene;

NCIt synonyms : ETV6-MECOM Fusion Gene; ETV6-EVI1 Fusion Gene; ETV6/EVI1 Fusion Gene; ETV6::MECOM Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(3;12)(q26;p13) which exon 2 of the ETV6 gene with exon 2 of the MECOM gene. This rearrangement is associated with myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.;

NCI Metathesaurus CUI : CL1378676;

Details

Origin ID

C168767;

UMLS CUI

C5239101;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- ETV6/MECOM Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- t(3;12)(q23;p12.3) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with t(3;12)(q26.2;p13.2); ETV6-MECOM [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with t(3;12)(q26.2;p13.2); ETV6-MECOM [NCIt concept]
related_to_genetic_biomarker
- ETV6 Gene [NCIt concept]
- MECOM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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