# Joubert syndrome

> genetic disorder affecting the cerebellum

**Wikidata**: [Q1101694](https://www.wikidata.org/wiki/Q1101694)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Joubert_syndrome)  
**Source**: https://4ort.xyz/entity/joubert-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. Mutations in TMEM231 cause Joubert syndrome in French Canadians
6. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000011143/MONDO_0018772)
8. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000116198/MONDO_0018772)
10. KIAA0586 is Mutated in Joubert Syndrome
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100578/MONDO_0018772)
12. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
13. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104218/MONDO_0018772)
14. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population
15. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
16. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000204852/MONDO_0018772)
17. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
18. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
19. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164953/MONDO_0018772)
20. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
21. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000148384/MONDO_0018772)
22. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
23. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000168778/MONDO_0018772)
24. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
25. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000106477/MONDO_0018772)
26. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
27. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000155755/MONDO_0018772)
28. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
29. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/f6c474c9-4035-498c-a902-03be50d36205--2020-06-03T21:01:14)
30. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6c474c9-4035-498c-a902-03be50d36205-2020-06-03T210114.719Z)
31. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169379/MONDO_0018772)
32. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000048342/MONDO_0018772)
33. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000103494/MONDO_0018772)
34. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000123810/MONDO_0018772)
35. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000135541/MONDO_0018772)
36. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000135931/MONDO_0018772)
37. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000168944/MONDO_0018772)
38. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000187049/MONDO_0018772)
39. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000198707/MONDO_0018772)
40. [Identifiers.org](https://registry.identifiers.org/registry/doid)
41. Quora
42. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)