DUX4, double homeobox 4, 100288687

N. diseases: 79; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia
0.020 AlteredExpression disease BEFREE ERG-related leukemia is a B cell precursor acute lymphoblastic leukemia (BCP ALL) subtype characterized by aberrant expression of DUX4 and ERG transcription factors, and highly recurrent ERG intragenic deletions. 28415578 2017
CUI: C0023418
Disease: leukemia
leukemia
0.020 AlteredExpression disease BEFREE These results illustrate a unique paradigm of transcription factor deregulation in leukemia in which DUX4 deregulation results in loss of function of ERG, either by deletion or induced expression of an isoform that is a dominant-negative inhibitor of wild-type ERG function. 27776115 2016