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 Biomarker disease CTD_human
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 CausalMutation disease CLINVAR 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 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 CausalMutation disease CLINVAR 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 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 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 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 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 CausalMutation disease CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 GeneticVariation disease CLINVAR
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
0.800 GermlineCausalMutation disease ORPHANET 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 UNIPROT 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 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