NPM1 wt Allele

Preferred Label : NPM1 wt Allele;

NCIt synonyms : B23; Nucleophosmin (Nucleolar Phosphoprotein B23, Numatrin) wt Allele; NPM; NUMATRIN; NPM1;

NCIt definition : Human NPM1 wild-type allele is located in the vicinity of 5q35 and is approximately 24 kb in length. This allele, which encodes nucleophosmin protein, may be involved in the maintenance of ribosomal structure. Mutation of the gene is associated with acute myelogenous leukemia. This gene can be involved in at least three translocations, t(2;5)(p23;q35) with the ALK gene is associated with non-Hodgkin lymphoma, t(5;17)(q32;q11) with the RARA gene is linked to acute promyelocytic leukemia and t(3;5)(q25.1;q34) with the MLF1 gene is a factor in myelodysplastic syndrome.;

GenBank Accession Number : NM_002520;

Details

Origin ID

C52487;

UMLS CUI

C1704851;

OMIM relation
- 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_associated_with_disease
- Acute Myeloid Leukemia [NCIt concept]
- Myelodysplastic Syndrome [NCIt concept]
- Non-Hodgkin Lymphoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q35 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with NPM1 Mutation [NCIt concept]
gene_is_biomarker_type
- Proliferation Marker [NCIt concept]

Keyword's position in hierarchy(ies) :

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