Ciliopathy

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CILIOPATHY
MONDO:0005308
CC2D2A Causal
18387594 18513680 18950740 19574260 19777577 21725307 21816947 24947469
ClinGen, HPO
RPGRIP1L Causal
17558407 17558409 29650680
ClinGen, ClinVar
TBC1D32 Causal
20159594 24285566 27002738 31130284 32060556 32573025
GWAS catalog, ClinGen —
TCTN3 Causal
22883145 28800946 34096782
CTD, ClinGen
TMEM231 Causal
22179047 23012439 23349226 25869670
ClinGen, GWAS catalog —
All71 Causal5 Unknown71
Related Diseases Diseases that share the most curated genes with Ciliopathy.
5 View disease cluster →
Joubert syndrome 25 shared genesZNF423, CC2D2A, RPGRIP1L, TMEM67, SUFU, TMEM138, TMEM216, TMEM231, CEP120, TBC1D32, CEP41, IFT74 +13 more Related via 25 shared genes including ZNF423, CC2D2A, RPGRIP1L. Aplasia of the vermis 24 shared genesWDPCP, CC2D2A, RPGRIP1L, TMEM67, SUFU, TMEM138, TMEM216, TMEM231, CEP120, IFT172, CEP41, IFT74 +12 more Related via 24 shared genes including WDPCP, CC2D2A, RPGRIP1L. Bardet-biedl syndrome 23 shared genesWDPCP, RPGRIP1L, TMEM67, IFT172, WDR19, SCLT1, BBS7, SDCCAG8, IFT74, ARL6, BBS2, CFAP418 +11 more Related via 23 shared genes including WDPCP, RPGRIP1L, TMEM67. Meckel-gruber syndrome 13 shared genesCC2D2A, RPGRIP1L, TMEM67, TMEM138, TMEM216, TMEM231, MKS1, B9D1, B9D2, TCTN3, TMEM107, TMEM218 +1 more Related via 13 shared genes including CC2D2A, RPGRIP1L, TMEM67. Nephronophthisis 13 shared genesZNF423, CC2D2A, RPGRIP1L, TMEM67, IFT172, WDR19, ADAMTS9, DCDC2, SDCCAG8, BBS9, IQCB1, CEP164 +1 more Related via 13 shared genes including ZNF423, CC2D2A, RPGRIP1L.