BCR/ABL1 Fusion Gene p230

Preferred Label : BCR/ABL1 Fusion Gene p230;

NCIt synonyms : BCR-ABL1 Fusion Gene p230; BCR/ABL Fusion Gene p230; BCR::ABL1 Fusion Gene p230;

NCIt definition : A fusion gene that results from a chromosomal translocation t(9;22)(q34;q11) that fuses exon 19 of the BCR gene to the 5' side of exon 2 of the ABL1 gene. This rearrangement is associated with chronic myelogenous leukemia.;

Details

Origin ID

C99307;

UMLS CUI

C3274673;

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
- BCR/ABL1 Fusion Protein p230 [NCIt concept]
gene_has_abnormality
- t(9;22)(q34.1;q11.2) [NCIt concept]
gene_involved_in_molecular_abnormality
- p230 Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with BCR-ABL1 [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Mixed Phenotype Acute Leukemia with BCR-ABL1 Fusion [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
related_to_genetic_biomarker
- ABL1 Gene [NCIt concept]
- BCR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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