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