Distal GATA2 Enhancer Repositioning

Preferred Label : Distal GATA2 Enhancer Repositioning;

NCIt synonyms : G2DHE Repositioning; GATA2 Distal Enhancer Repositioning; GATA2 Distal Hematopoietic Enhancer Repositioning;

NCIt definition : A finding indicating the repositioning of a distal GATA2 enhancer caused by chromosomal rearrangements.;

NCI Metathesaurus CUI : CL1906282;

Details

Origin ID

C198845;

UMLS CUI

C5855167;

Semantic type(s)
- Finding [UMLS semantic type]
is_finding_of_disease
- Acute Myeloid Leukemia with inv(3) (q21.3;q26.2); GATA2, MECOM [NCIt concept]
- Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM [NCIt concept]
- Acute Myeloid Leukemia with t(3;3) (q21.3;q26.2); GATA2, MECOM [NCIt concept]
is_not_finding_of_disease
- Acute Myeloid Leukemia with a Variant MECOM Rearrangement [NCIt concept]
- Acute Myeloid Leukemia with t(3;12)(q26.2;p13.2); ETV6-MECOM [NCIt concept]
- Acute Myeloid Leukemia with t(3;21)(q26.2;q22.1); MECOM-RUNX1 [NCIt concept]
- Acute Myeloid Leukemia with t(3;8)(q26.2;q24); MYC, MECOM [NCIt concept]
related_to_genetic_biomarker
- GATA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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