Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24214728 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Mutations in EZH2 cause Weaver syndrome. 22177091 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 22190405 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 GeneticVariation phenotype CLINVAR Weaver syndrome: autosomal dominant inheritance of the disorder. 9781912 1998