EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.360 AlteredExpression disease BEFREE The histone acetyltransferase p300 promotes self-renewal of leukemia cells by acetylating AE and facilitating its downstream gene expression as a transcriptional coactivator, suggesting that p300 may be a potential therapeutic target for AE-positive AML. 23390536 2013
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.360 Biomarker disease BEFREE The other 9 mutations were only apparent in the AML cells and affected known AML-associated genes (RUNX1 and ASXL1) and chromatin remodelers (SUZ12 and EP300). 22371884 2012
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.360 PosttranslationalModification disease BEFREE We investigated the frequency of aberrant methylation of p300 promoter in seven leukemic cell lines, as well as in the diagnostic samples of 46 patients with acute myelocytic leukemia (11 with M1, 22 with M2, 3 with M4, and 1 with M5), 24 patients with acute promyelocytic leukemia, and 22 patients with acute lymphoblastic leukemia (3 with T-cell, 1 with pre-B, 2 with Burkitt, 2 with early B-precursors, and 14 with common). 15066326 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.360 GeneticVariation disease BEFREE In this study, various hematological malignancies, including nine cell lines and 45 clinical samples (32 acute myeloid leukemias (AML), nine acute lymphoblastic leukemias (ALL), two cases of myelodysplastic syndrome (MDS), one multiple myeloma, and one chronic myelogenous leukemia in blast crisis), were examined to ask whether mutation of the CBP and p300 genes could be involved in leukemogenesis. 15312679 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.360 GeneticVariation disease BEFREE We report the fusion of the MOZ gene to the p300 gene in acute myeloid leukemia with translocation t(8;22)(p11;q13). 11243405 2001
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.360 Biomarker disease BEFREE We identify here that the p300 gene is fused to the MLL gene and that in-frame MLL-p300 fusion protein is generated in acute myeloid leukemia (AML) with t(11; 22)(q23; q13). 9389684 1997
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.360 CausalMutation disease CGI