Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 CausalMutation 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
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 CausalMutation 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
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 CausalMutation 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
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 GeneticVariation CLINVAR

Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.500 GeneticVariation CLINVAR Selective inhibition of EZH2 by EPZ-6438 leads to potent antitumor activity in EZH2-mutant non-Hodgkin lymphoma. 24563539

2014
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.500 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262

2012
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.180 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.140 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24214728

2013
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Mutations in EZH2 cause Weaver syndrome. 22177091

2012
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 22190405

2011
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR Weaver syndrome: autosomal dominant inheritance of the disorder. 9781912

1998
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24214728

2013
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Mutations in EZH2 cause Weaver syndrome. 22177091

2012
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 22190405

2011
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Weaver syndrome: autosomal dominant inheritance of the disorder. 9781912

1998