Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220765
Disease: Weaver-Like Syndrome
Weaver-Like Syndrome
0.210 Biomarker disease MGD Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity. 29244146 2018
CUI: C0220765
Disease: Weaver-Like Syndrome
Weaver-Like Syndrome
0.210 GeneticVariation disease BEFREE Recently, germline mutations in the SUZ12, EZH2 and EED genes have been reported in Weaver syndrome (WS) or Weaver-like syndrome, suggesting a functional link between PRC2 deficits and WS. 30019515 2018