Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Acute Megakaryoblastic Leukemia
0.050 GeneticVariation disease BEFREE We present a case of acute megakaryoblastic leukemia with t(1;22)(p13;q13) along with a discussion of the current understanding of the molecular biology of RBM15-MKL1. 22469944 2012
Childhood Acute Megakaryoblastic Leukemia
0.050 GeneticVariation disease BEFREE The chromosome region 22q13 harbors MKL1 gene, which is engaged in a specific translocation associated with acute megakaryoblastic leukemia. 20417868 2010
Childhood Acute Megakaryoblastic Leukemia
0.050 GeneticVariation disease BEFREE Megakaryoblastic leukemia 1 (MKL1), identified as part of the t(1;22) translocation specific to acute megakaryoblastic leukemia, is highly expressed in differentiated muscle cells and promotes muscle differentiation by activating serum response factor (SRF). 19136660 2009
Childhood Acute Megakaryoblastic Leukemia
0.050 Biomarker disease BEFREE Collectively, these functional and spatial changes of OTT and BSAC caused by the fusion might perturb their functions, culminating in the development of acute megakaryoblastic leukemia. 18667423 2008
Childhood Acute Megakaryoblastic Leukemia
0.050 GeneticVariation disease BEFREE Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. 11431691 2001