MIR143/NOTCH2 Fusion Gene

Preferred Label : MIR143/NOTCH2 Fusion Gene;

NCIt synonyms : MicroRNA 143/Notch 2 Fusion Gene; MIR143-NOTCH2 Fusion Gene; MicroRNA 143-Notch 2 Fusion Gene; MIR143::NOTCH2 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(1;5)(p13;q32) that fuses exon 1 of the MIR143 gene to exon 27 of the NOTCH2 gene. This rearrangement may result in overexpression of the NOTCH intracellular domain (NICD) of neurogenic locus notch homolog protein 2 and is associated with benign and malignant glomus tumors.;

NCI Metathesaurus CUI : CL1647963;

PubMed : 23999936;

Details

Origin ID

C178248;

UMLS CUI

C5554896;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_involved_in_pathogenesis_of_disease
- Glomus Tumor [NCIt concept]
gene_mapped_to_disease
- Benign Glomus Tumor [NCIt concept]
- Bone Glomus Tumor [NCIt concept]
- Gastric Glomus Tumor [NCIt concept]
- Glomangioma [NCIt concept]
- Glomangiomatosis [NCIt concept]
- Glomangiomyoma [NCIt concept]
- Glomus Tumor [NCIt concept]
- Glomus Tumor of Uncertain Malignant Potential [NCIt concept]
- Hereditary Glomangioma [NCIt concept]
- Locally Advanced Malignant Glomus Tumor [NCIt concept]
- Malignant Glomus Tumor [NCIt concept]
- Metastatic Malignant Glomus Tumor [NCIt concept]
- Penile Glomus Tumor [NCIt concept]
- Refractory Malignant Glomus Tumor [NCIt concept]
- Skin Glomangioma [NCIt concept]
- Skin Glomus Tumor [NCIt concept]
- Solid Glomus Tumor [NCIt concept]
- Subungual Glomus Tumor [NCIt concept]
- Telangiectatic Glomangioma [NCIt concept]
- Unresectable Malignant Glomus Tumor [NCIt concept]
related_to_genetic_biomarker
- MIR143 Gene [NCIt concept]
- NOTCH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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