Joubert syndrome with oculorenal defect

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Subtype of: Joubert syndrome
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Joubert syndrome with oculorenal defect
MONDO_0009480
CEP290 Unknown
20690115 18327255
Open Targets
TMEM138 Unknown
22282472
Open Targets —
TMEM216 Unknown
22282472 20036350 20512146
Open Targets
TMEM237 Unknown
22152675 20301500
Open Targets —
All4 Causal0 Unknown4
Related Diseases Diseases that share the most curated genes with Joubert syndrome with oculorenal defect.
5 View disease cluster →
Arima syndrome 4 shared genesCEP290, TMEM138, TMEM216, TMEM237 Related via 4 shared genes including CEP290, TMEM138, TMEM216. Meckel syndrome type 4 1 shared geneCEP290 Related via 1 shared gene including CEP290. Meckel syndrome 2 1 shared geneTMEM216 Related via 1 shared gene including TMEM216. Joubert syndrome 14 1 shared geneTMEM237 Related via 1 shared gene including TMEM237. Congenital kidney anomaly 1 shared geneCEP290 Related via 1 shared gene including CEP290.