Apert syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
APERT SYNDROME
10120087C0001193MONDO:0007041
FGFR2 Unknown
15282208 20301628 23593218 7719344 9002682 9973282 7668257 8651276 9217234 9452027
ClinGen, Disgenet, HPO, Orphanet
RAB18 Unknown — Disgenet
RAB3GAP1 Unknown — Disgenet
RAB3GAP2 Unknown — Disgenet
TBC1D20 Unknown — Disgenet
All5 Causal0 Unknown5
Related Diseases Diseases that share the most curated genes with Apert syndrome.
5 View disease cluster →
Congenital malformation syndromes predominantly affecting facial appearance 4 shared genesRAB18, RAB3GAP1, RAB3GAP2, TBC1D20 Related via 4 shared genes including RAB18, RAB3GAP1, RAB3GAP2. Warburg micro syndrome 4 shared genesRAB18, RAB3GAP1, RAB3GAP2, TBC1D20 Related via 4 shared genes including RAB18, RAB3GAP1, RAB3GAP2. Cryptophthalmos syndrome 4 shared genesRAB18, RAB3GAP1, RAB3GAP2, TBC1D20 Related via 4 shared genes including RAB18, RAB3GAP1, RAB3GAP2. Cyclocephaly 4 shared genesRAB18, RAB3GAP1, RAB3GAP2, TBC1D20 Related via 4 shared genes including RAB18, RAB3GAP1, RAB3GAP2. Goldenhar syndrome 4 shared genesRAB18, RAB3GAP1, RAB3GAP2, TBC1D20 Related via 4 shared genes including RAB18, RAB3GAP1, RAB3GAP2.