PAX8/GLIS1 Fusion Gene

Preferred Label : PAX8/GLIS1 Fusion Gene;

NCIt synonyms : PAX8-GLIS1 Fusion Gene; Paired Box 8/GLIS Family Zinc Finger 1 Fusion Gene; Paired Box 8-GLIS Family Zinc Finger 1 Fusion Gene; PAX8::GLIS1 Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal translocation t(1;2)(p32;q13) which fuses exon 2 of the PAX8 gene with exon 2 of the GLIS1 gene. This fusion is associated with thyroid hyalinizing trabecular tumor (HTT).;

NCI Metathesaurus CUI : CL1792144;

PubMed : 30648929; 31373774;

Détails

Origin ID

C187434;

UMLS CUI

C5707079;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_encodes_gene_product
- PAX8/GLIS1 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
- GLIS1 Gene [NCIt concept]
- PAX8 Gene [NCIt concept]

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