CBFB, core-binding factor subunit beta, 865

N. diseases: 76; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 GeneticVariation disease BEFREE RUNX1/CBFβ (core binding factor [CBF]) is a heterodimeric transcription factor complex that is frequently involved in chromosomal translocations, point mutations, or deletions in acute leukemia. 24449215 2014
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 AlteredExpression disease BEFREE The mixed-lineage leukemia (MLL) H3K4 methyltransferase protein, and the heterodimeric RUNX1/CBFβ transcription factor complex, are critical for definitive and adult hematopoiesis, and both are frequently targeted in human acute leukemia. 22012064 2011
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 Biomarker disease BEFREE Analyzing leukemias with inv 16 which do not have a typical CBFB/MYH11 chimeric mRNA might lead to understanding an alternative pathogenesis for acute leukemia with inv 16. 9156661 1997