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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SAETHRE-CHOTZEN SYNDROME FGFR2 Causal ClinVar, Disgenet, GenCC, HPO, Orphanet
FGFR3 Causal — Disgenet, Orphanet
TWIST1 Causal CTD, ClinGen, ClinVar, Disgenet, HPO, Orphanet
SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES TWIST1 Causal CTD, Disgenet, ClinGen
All3 Causal3 Unknown0