Gene: EZH2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		0.020 GeneticVariation disease BEFREE Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity. 29244146 2018
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		0.020 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