Desanto-shinawi syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
DESANTO-SHINAWI SYNDROME
616708C4225239MONDO:0018760OMIM:616708
WAC Causal
24726472 25356899 26264232 26757981
CTD, ClinGen, Disgenet, GWAS catalog, HPO
DESANTO-SHINAWI SYNDROME DUE TO WAC POINT MUTATION
MONDO:0014741
WAC Causal
26264232 26757981 35018708 31594069 32214004 33387902 34997803
ClinVar, GWAS catalog, ClinGen
All1 Causal1 Unknown0
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