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: 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