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 BEFREE Consistent with a role for EZH2 in human oocytes, we demonstrate that de novo germline mutations in EZH2 occurred in the maternal germline in some cases of Weaver syndrome. 30005706 2018
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE These data show that mutations in EZH2 cause Weaver syndrome. 22177091 2012
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the enhancer of zeste homolog 2 (EZH2) gene were found to cause Weaver syndrome, and have been associated with hematologic malignancies, including acute myeloid leukemia (AML). 26762561 2016
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE On the basis of the similarities of the patient's phenotype to Weaver syndrome, which is caused by de novo mutations in EZH2, and on other lines of evidence including mouse Eed hypomorphs, we characterize this mutation as probably pathogenic for a Weaver-like overgrowth syndrome. 25787343 2015
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE To test alternative hypotheses that EZH2 variants found in Weaver syndrome cause either a gain of function or a partial loss of function. 29244146 2018
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE We compare the EED phenotype with that of Weaver syndrome (56 individuals), caused by constitutive EZH2 variants. 30793471 2019
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 30613354 2018
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. 24214728 2013
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25.4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c.707G>C, p.Arg236Thr) in EED (individual 2), and a missense mutation (c.1829A>T, p.Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation. 28229514 2017
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 BEFREE Emerging evidence in the literature indicates that Weaver syndrome EZH2 mutations may result in loss of function of the gene and our report suggests that haploinsufficiency of EZH2 may replicate the clinical phenotype of Weaver syndrome. 28696078 2017
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 Biomarker disease BEFREE Constitutional pathogenic variants in its component proteins have been found to cause two established overgrowth syndromes: Weaver syndrome (EZH2-related overgrowth) and Cohen-Gibson syndrome (EED-related overgrowth).Imagawa et al. 31736240 2019
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE These findings support that Weaver syndrome is a disorder with locus heterogeneity and can be due to pathogenic variants in either EZH2 or EED. 27868325 2017
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE Our results support the hypothesis that WS is caused by constitutional mutations in EZH2 that alter the histone methyltransferase function of PRC2. 26694085 2016
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE Recently, germline mutations in the SUZ12, EZH2 and EED genes have been reported in Weaver syndrome (WS) or Weaver-like syndrome, suggesting a functional link between PRC2 deficits and WS. 30019515 2018
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE Here we report a stepwise feedback mechanism entailing key residues within distinctive interfacing motifs of EZH2 or EED that are found to be mutated in cancers and/or Weaver syndrome. 29681499 2018
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation disease BEFREE EZH2-associated overgrowth, caused by constitutional heterozygous mutations within Enhancer of Zeste homologue 2 (EZH2), has a phenotypic spectrum ranging from tall stature without obvious intellectual disability or dysmorphic features to classical Weaver syndrome (OMIM #277590). 31724824 2019
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 Biomarker disease BEFREE Our observation, together with previous reports suggests that EED gene testing is warranted in patients with the overgrowth syndrome features and suspicion of Weaver syndrome with normal results of EZH2 gene sequencing. 29410511 2018
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 GeneticVariation disease BEFREE We detected EZH2 mutations in 12/55 (22%) follicular lymphomas (FL), 5/35 (14%) diffuse large B cell lymphomas with a germinal center immunophenotype (GCB-DLBCL), and 2/11 (18%) high grade B cell lymphomas with concurrent rearrangements of BCL2 and MYC. 22194861 2011
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.700 GeneticVariation disease BEFREE A new study now reports recurrent somatic mutation of EZH2, a histone methyltransferase that modifies H3K27, in diffuse large B-cell lymphoma (DLBCL). 20104248 2010
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.700 Biomarker disease BEFREE Activating mutations of genes involved in the BCR and NF-κB pathways (CD79A, CD79B, MYD88, and CARD11) or in epigenetic regulation (EZH2) have been recently reported, preferentially in one of the two DLBCL subtypes. 24327543 2014
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 Biomarker disease BEFREE Mutations in EZH2 (Y646) and CD79B (Y196) were detected in 13.2% and 8% of the samples, respectively, almost exclusively in follicular lymphomas and diffuse large B-cell lymphomas. 23361872 2013
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