Details of Disease | DrugMAP

General Information of Disease (ID: DISGTP4K)

Disease Name	Joubert syndrome 35
Synonyms	JOUBERT SYNDROME 35; JBTS35
Disease Hierarchy	DIS7P5CO: Joubert syndrome DISGTP4K: Joubert syndrome 35
Disease Identifiers	MONDO ID MONDO_0032570 UMLS CUI C4748442 OMIM ID 618161 MedGen ID 1648453

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARL3	OT3OGOMX	Strong	Autosomal recessive	[1]
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References

1	ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. Am J Hum Genet. 2018 Oct 4;103(4):612-620. doi: 10.1016/j.ajhg.2018.08.015. Epub 2018 Sep 27.