NPM1/ALK Fusion Gene

Preferred Label : NPM1/ALK Fusion Gene;

NCIt synonyms : ALK/NPM1 Fusion Gene; NPM-ALK Fusion Gene; NPM1-ALK Fusion Gene; NPM1::ALK Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(2;5)(p23;q35) which fuses the first 4 exons of the NPM1 gene with the last ten exons of the ALK gene. This fusion is associated with both anaplasic large cell lymphoma and rare cases of diffuse large B-cell lymphoma.;

Détails

Origin ID

C99361;

UMLS CUI

C4551875;

Automatic exact mappings (from CISMeF team)
- Alk receptor tyrosine kinase [OMIM gene]
- Nucleophosmin/nucleoplasmin family, member 1 [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
- NPM1/ALK Fusion Protein [NCIt concept]
gene_has_abnormality
- t(2;5)(p23;q35) [NCIt concept]
gene_involved_in_molecular_abnormality
- NPM1-ALK Fusion Protein Expression [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
gene_mapped_to_disease
- Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
- Childhood Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
- Primary Central Nervous System Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
- Recurrent Systemic Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
- Refractory Systemic Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
- Systemic Anaplastic Large Cell Lymphoma, ALK-Positive [NCIt concept]
gene_plays_role_in_process
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- t(2;5)(p23;q35) [NCIt concept]
related_to_genetic_biomarker
- ALK Gene [NCIt concept]
- NPM1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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