Skeletal ciliopathy

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
INTU-related skeletal ciliopathy
INTU Unknown — ClinGen
Skeletal ciliopathy
MONDO_0005308
FUZ Unknown
34719684 29068549 38702430
Open Targets
All2 Causal0 Unknown2
Related Diseases Diseases that share the most curated genes with Skeletal ciliopathy.
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Caudal regression syndrome 1 shared geneFUZ Related via 1 shared gene including FUZ. Neural tube defects, susceptibility to 1 shared geneFUZ Related via 1 shared gene including FUZ. Majewski syndrome 1 shared geneFUZ Related via 1 shared gene including FUZ. Jeune thoracic dystrophy 2 shared genesINTU, FUZ Related via 2 shared genes including INTU, FUZ. Orofaciodigital syndrome 2 shared genesINTU, FUZ Related via 2 shared genes including INTU, FUZ.