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
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group 0.500 None 1.000 2 3 2003 2020
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		disease 0.180 None 1.000 1 3 2012 2019
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.140 None 1.000 1 3 2015 2017
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.110 None 1.000 5 1 1998 2019
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 5 1 1998 2013