ETV6/PDGFRB Fusion Gene

Preferred Label : ETV6/PDGFRB Fusion Gene;

NCIt synonyms : PDGFRB/ETV6 Fusion Gene; ETV6-PDGFRB Fusion Gene; ETV6::PDGFRB Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(5;12)(q33;p13) which fuses the 5' part of the ETV6 gene with the 3' part of the PDGFRB gene. This gene fusion is associated with chronic myelomonocytic leukemia.;

Details

Origin ID

C99403;

UMLS CUI

C1868259;

Automatic exact mappings (from CISMeF team)
- Ets variant transcription factor 6 [OMIM gene]
- Platelet-derived growth factor receptor, beta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- ETV6/PDGFRB Fusion Protein [NCIt concept]
gene_involved_in_molecular_abnormality
- ETV6-PDGFRB Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Chronic Myelomonocytic Leukemia with Eosinophilia Associated with t(5;12)(q31;p12) [NCIt concept]
gene_mapped_to_disease
- Chronic Myelomonocytic Leukemia with Eosinophilia Associated with t(5;12)(q31;p12) [NCIt concept]
gene_plays_role_in_process
- Tyrosine Phosphorylation [NCIt concept]
related_to_genetic_biomarker
- ETV6 Gene [NCIt concept]
- PDGFRB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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