Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24214728 2013
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Mutations in EZH2 cause Weaver syndrome. 22177091 2012
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 22190405 2011
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Weaver syndrome: autosomal dominant inheritance of the disorder. 9781912 1998