NUP214 Gene - CISMeF

Preferred Label : NUP214 Gene;

NCIt synonyms : Nucleoporin 214 Gene;

NCIt related terms : NUP214;

CISMeF acronym : NUP214;

NCIt definition : This gene plays a critical role in nuclear transport and docking regulation. Alterations in the gene have been associated with several cancers and leukemias.;

Details

Origin ID

C24649;

UMLS CUI

C1334912;

Automatic exact mappings (from CISMeF team)
- Nucleoporin, 214-kd [OMIM gene]
- nucleoporin 214 [ORDO Gene]
HGNC gene
- nucleoporin 214 [HGNC gene]
OMIM relation
- Nucleoporin, 214-kd [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Nucleoporin, 214-kd [OMIM gene]
- nucleoporin 214 [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
- Myelodysplastic Syndrome [NCIt concept]
gene_encodes_gene_product
- Nuclear Pore Complex Protein Nup214 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- DEK-NUP214 Fusion Protein Expression [NCIt concept]
- NUP214 Gene Rearrangement [NCIt concept]
- t(6;9)(p22.3;q34.1) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with t(6;9)(p22.3;q34.1); DEK-NUP214 [NCIt concept]
gene_mapped_to_disease
- Acute Myeloid Leukemia with t(6;9)(p22.3;q34.1); DEK-NUP214 [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Progression [NCIt concept]
- Ligand Binding [NCIt concept]
- Nucleocytoplasmic Transport [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]
genetic_biomarker_related_to
- DEK/NUP214 Fusion Gene [NCIt concept]
- DEK/NUP214 Fusion Protein [NCIt concept]
- NUP214 Gene Alteration Positive [NCIt concept]
- NUP214/ABL1 239 kDa Fusion Protein [NCIt concept]
- NUP214/ABL1 310-333 kDa Fusion Protein [NCIt concept]
- NUP214/ABL1 Fusion Gene [NCIt concept]
- NUP214/ABL1 Fusion Gene Variant 1 [NCIt concept]
- NUP214/ABL1 Fusion Gene Variant 2 [NCIt concept]
- SET/NUP214 Fusion Gene [NCIt concept]
- SET/NUP214 Fusion Protein [NCIt concept]
- t(6;9)(p22;q34)(DEK/NUP214) Fusion Transcript in Blood or Tissue by FISH [NCIt concept]

Keyword's position in hierarchy(ies) :

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