PAX8/GLIS3 Fusion Gene

Preferred Label : PAX8/GLIS3 Fusion Gene;

NCIt synonyms : Paired Box 8-GLIS Family Zinc Finger 3 Fusion Gene; PAX8-GLIS3 Fusion Gene; Paired Box 8/GLIS Family Zinc Finger 3 Fusion Gene; PAX8::GLIS3 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(2;9)(q14.1;9p24.2) which fuses exon 2 of the PAX8 gene upstream of either exon 3 or 4 of the GLIS3 gene. This fusion is associated with thyroid hyalinizing trabecular tumor (HTT).;

NCI Metathesaurus CUI : CL1792151;

PubMed : 30648929; 31373774;

Détails

Origin ID

C187436;

UMLS CUI

C5707081;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- PAX8/GLIS3 Fusion Protein [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Thyroid Gland Hyalinizing Trabecular Tumor [NCIt concept]
gene_mapped_to_disease
- Thyroid Gland Hyalinizing Trabecular Tumor [NCIt concept]
gene_plays_role_in_process
- Transcriptional Regulation [NCIt concept]
related_to_genetic_biomarker
- GLIS3 Gene [NCIt concept]
- PAX8 Gene [NCIt concept]

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