FN1/EGF Fusion Gene

Preferred Label : FN1/EGF Fusion Gene;

NCIt synonyms : FN1-EGF Fusion Gene; Fibronectin 1/Epidermal Growth Factor Fusion Gene; Fibronectin 1-Epidermal Growth Factor Fusion Gene; FN1::EGF Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal insertion ins(2;4)(q35;q25) which fuses exon 23, 27 or 42 of the FN1 gene upstream of exon 17 or 19 of the EGF gene. This rearrangement is associated with calcifying aponeurotic fibroma.;

NCI Metathesaurus CUI : CL1643068;

PubMed : 26691015;

Details

Origin ID

C177258;

UMLS CUI

C5447652;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- FN1/EGF Fusion Protein [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Calcifying Aponeurotic Fibroma [NCIt concept]
gene_mapped_to_disease
- Calcifying Aponeurotic Fibroma [NCIt concept]
related_to_genetic_biomarker
- EGF Gene [NCIt concept]
- FN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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