Disease: Weaver syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044844
rs797044844
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		C 0.700 CausalMutation CLINVAR Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24214728 2013