Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.020 Biomarker disease BEFREE This study demonstrates that human primary acute myeloid leukemia (AML) cells exhibit near complete loss of SMARCB1 (BAF47 or SNF5/INI1) and SMARCD2 (BAF60B) associated with nucleation of SWI/SNF<sup>Δ</sup> SMARCC1 (BAF155), an intact core component of SWI/SNF<sup>Δ</sup>, colocalized with H3K27Ac to target oncogenic loci in primary AML cells. 29483235 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.020 AlteredExpression disease BEFREE Defective expression of SMARCD2 leads to transcriptional and chromatin changes in acute myeloid leukemia (AML) human promyelocytic cells. 28369036 2017