Potocki-lupski syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
POTOCKI-LUPSKI SYNDROME
610883C2931246MESH:C538355MONDO:0012574
FLCN Unknown — CTD, Disgenet, HPO
RAI1 Unknown
17517686
CTD, Disgenet, GenCC —
All2 Causal0 Unknown2
Related Diseases Diseases that share the most curated genes with Potocki-lupski syndrome.
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17p11.2 microduplication syndrome 2 shared genesFLCN, RAI1 Related via 2 shared genes including FLCN, RAI1. Birt-hogg-dube syndrome 1 shared geneFLCN Related via 1 shared gene including FLCN. Smith-magenis syndrome 1 shared geneRAI1 Related via 1 shared gene including RAI1. Omphalocele exstrophy imperforate anus 1 shared geneFLCN Related via 1 shared gene including FLCN. Growth disorder 1 shared geneRAI1 Related via 1 shared gene including RAI1.