NPM1 Gene - CISMeF

Preferred Label : NPM1 Gene;

NCIt synonyms : NPM1; Nucleophosmin (Nucleolar Phosphoprotein B23, Numatrin) Gene;

CISMeF acronym : NPM1;

NCIt definition : This gene is involved in the regulation of ribosomal assembly.;

Details

Origin ID

C21185;

UMLS CUI

C1334894;

Automatic exact mappings (from CISMeF team)
- NPM1 gene [LOINC component]
- Nucleophosmin/nucleoplasmin family, member 1 [OMIM gene]
- nucleophosmin 1 [ORDO Gene]
HGNC gene
- nucleophosmin 1 [HGNC gene]
OMIM relation
- Nucleophosmin/nucleoplasmin family, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NPM1 gene [LOINC component]
- Nucleophosmin/nucleoplasmin family, member 1 [OMIM gene]
- nucleophosmin 1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_associated_with_disease
- Acute Myeloid Leukemia [NCIt concept]
- Myelodysplastic Syndrome [NCIt concept]
- Non-Hodgkin Lymphoma [NCIt concept]
gene_encodes_gene_product
- Nucleophosmin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Cytoplasmic Nucleophosmin Expression [NCIt concept]
- NPM-ALK Fusion Protein Expression [NCIt concept]
- NPM1 Gene Mutation [NCIt concept]
- NPM1 Gene Rearrangement [NCIt concept]
- NPM1-RARA Fusion Protein Expression [NCIt concept]
- t(2;5)(p23;q35) [NCIt concept]
- t(3;5)(q25;q34) [NCIt concept]
- t(5;17)(q35;q21) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with NPM1 Mutation [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with NPM1 Mutation [NCIt concept]
genetic_biomarker_related_to
- NPM1 Gene Alteration Positive [NCIt concept]
- NPM1 Gene Fusion Positive [NCIt concept]
- NPM1/ALK Fusion Gene [NCIt concept]
- NPM1/ALK Fusion Protein [NCIt concept]
- NPM1/MLF1 Fusion Gene [NCIt concept]
- NPM1/MLF1 Fusion Protein [NCIt concept]
- NPM1/RARA Long Fusion Gene [NCIt concept]
- NPM1/RARA Long Fusion Protein [NCIt concept]
- NPM1/RARA Short Fusion Gene [NCIt concept]
- NPM1/RARA Short Fusion Protein [NCIt concept]

Keyword's position in hierarchy(ies) :

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