Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 GeneticVariation disease UNIPROT These data show that mutations in EZH2 cause Weaver syndrome. 22177091 2012
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 GeneticVariation disease UNIPROT Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth. 22190405 2011
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 Biomarker disease GENOMICS_ENGLAND Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth. 22190405 2011
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 CausalMutation disease CLINVAR Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth. 22190405 2011
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 GeneticVariation disease BEFREE Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth. 22190405 2011
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 Biomarker disease CTD_human
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 GeneticVariation disease CLINVAR
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 AlteredExpression disease BEFREE Degradation of PRC2 with UNC6852 blocks the histone methyltransferase activity of EZH2, decreasing H3K27me3 levels in HeLa cells and diffuse large B cell lymphoma (DLBCL) cells containing EZH2 gain-of-function mutations. 31831267 2020
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 Biomarker disease BEFREE In this study, we treated Burkitt lymphoma (BL) and diffuse large B-cell lymphoma (DLBCL) cell lines with 3-deazaneplanocin-A (DZNep), an indirect EZH2 inhibitor which possesses anticancer properties both in-vitro and in-vivo. 31419226 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 GeneticVariation disease BEFREE Germinal center-like DLBCL is enriched for activating EZH2 mutations, and encouraging activity has been observed for the EZH2 inhibitor tazemetostat, which now has a fast-track US Food and Drug Administration designation. 31287161 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 AlteredExpression disease BEFREE EZH2 inhibitors reversed the upregulation of trimethylation of H3K27, and synergistically inhibited diffuse large B-cell lymphoma and other solid tumors growth in vitro and in vivo. 31289198 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 AlteredExpression disease BEFREE Univariate analyses revealed that EZH2/Bcl-2 coexpression correlated to worse objective response rate (ORR), shorter OS and PFS in DLBCL patients treated with RCHOP while multivariate analysis indicated that only elevated LDH level (<i>P</i>=0.001) and presence of B symtom (<i>P</i>=0.008) rather than EZH2/Bcl-2 coexpression were associated with worse OS. 31205561 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 AlteredExpression disease BEFREE Of clinical relevance, EZH2 inhibitors significantly restored MHC expression in <i>EZH2</i>-mutated human DLBCL cell lines. 30705065 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 GeneticVariation disease BEFREE We also identified multiple acquired mutations in EZH2 inhibitor-resistant DLBCL cell lines. 29572378 2018
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 AlteredExpression disease BEFREE Tazemetostat, first-in-class EZH2 inhibitor, demonstrated enhanced clinical activity in mutant follicular lymphoma and diffuse large B cell lymphoma. 30112706 2018
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 Biomarker disease BEFREE EZH2 Inhibition by Tazemetostat Results in Altered Dependency on B-cell Activation Signaling in DLBCL. 28835384 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 AlteredExpression disease BEFREE EZH2 overexpression in primary gastrointestinal diffuse large B-cell lymphoma and its association with the clinicopathological features. 28438623 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 AlteredExpression disease BEFREE We investigated RUNX3 and EZH2 expression in diffuse large B-cell lymphoma (DLBCL). 27184221 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 Biomarker disease BEFREE Moreover, oncogenic BCL6 and EZH2 cooperate to accelerate diffuse large B cell lymphoma (DLBCL) development and combinatorial targeting of these repressors results in enhanced anti-lymphoma activity in DLBCLs. 27505670 2016
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 Biomarker disease BEFREE We investigated the potential signaling molecules that regulate EZH2 overexpression in aggressive B-cell lymphomas and found that 80% of cases of EZH2-positive diffuse large B-cell lymphoma show high p-ERK1/2 expression (average ~57% tumor cell positivity). 27282353 2016
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 GeneticVariation disease BEFREE Prioritized alterations in epigenetic modulators were common and included gain-of-function EZH2 and loss-of-function ARID1A mutations (14% of diffuse large B-cell lymphomas and 22% of follicular lymphomas contained alterations in each of these two genes). 27102345 2016
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 GeneticVariation disease BEFREE HDAC1,2 inhibition impairs EZH2- and BBAP-mediated DNA repair to overcome chemoresistance in EZH2 gain-of-function mutant diffuse large B-cell lymphoma. 25605023 2015
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 AlteredExpression disease BEFREE High-level EZH2 and H3K27me3 were common in DLBCL independent of cell-of-origin and EZH2 mutation. 25651430 2015
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.700 GeneticVariation disease BEFREE Here, we discuss the function of histone acetyltransferases (CREBBP, EP300), histone methyltransferases (KDM2C/D, EZH2) and regulators of higher order chromatin structure (HIST1H1C/D/E, ARID1A and SMARCA4) that have been reported to be mutated in ⩾5% of DLBCL, FL or BL. 26473533 2015