Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		disease 0.800 None 1.000 4 11 2011 2019