Weaver syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Weaver syndrome 3447, C0265210 EZH2 Causal Pathogenic evidence from ClinVar 22177091, 22190405, 23239504, 24214728, 26380986, 26694085, 28229514 ClinVar
EED Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28229514 -
KMT2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NSD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12807965, 16222665 -
SUZ12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28229514 -