NUP98/NSD1 Fusion Gene

Preferred Label : NUP98/NSD1 Fusion Gene;

NCIt synonyms : NUP98-NSD1 Fusion Gene; NUP98::NSD1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(5;11)(q35;p15.5) which fuses the first half of the NUP98 gene to the 3' portion of the NSD1 gene. This fusion is associated with myelodysplastic syndrome.;

NCI Metathesaurus CUI : CL433120;

Details

Origin ID

C99434;

UMLS CUI

C1847677;

Automatic exact mappings (from CISMeF team)
- Nuclear receptor-binding set domain protein 1 [OMIM gene]
- Nucleoporin, 98-kd [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
- NUP98/NSD1 Fusion Protein [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Childhood Acute Myeloid Leukemia with t(5;11)(q35;p15); NUP98-NSD1 [NCIt concept]
gene_mapped_to_disease
- Childhood Acute Myeloid Leukemia with t(5;11)(q35;p15); NUP98-NSD1 [NCIt concept]
related_to_genetic_biomarker
- NSD1 Gene [NCIt concept]
- NUP98 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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