Weaver syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
WEAVER SYNDROME
2775903447C0265210MESH:C536687MONDO:0010193
EZH2 Causal
22177091 23865096 24214728 30793471 26694085 26762561
CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet
EED Unknown
27868325_28229514
CTD, Disgenet
NSD1 Unknown
12807965
CTD, Disgenet, Orphanet
PIK3CA Unknown — Disgenet
Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
SUZ12 Unknown
28229514
ClinGen, Disgenet, Orphanet
WEAVER-LIKE SYNDROME
C0220765
EZH2 Unknown
24214728 26694085 26762561 30793471
Disgenet, ClinGen
NSD1 Unknown
16222665 12525543 11896389
Disgenet
All5 Causal1 Unknown5
Related Diseases Diseases that share the most curated genes with Weaver syndrome.
5 View disease cluster →
Sotos syndrome 2 shared genesNSD1, PIK3CA Related via 2 shared genes including NSD1, PIK3CA. Cohen-gibson syndrome 1 shared geneEED Related via 1 shared gene including EED. Clapo syndrome 1 shared genePIK3CA Related via 1 shared gene including PIK3CA. Cloves syndrome 1 shared genePIK3CA Related via 1 shared gene including PIK3CA. Congenital intestinal duplication 1 shared genePIK3CA Related via 1 shared gene including PIK3CA.