Details of Disease | DrugMAP

General Information of Disease (ID: DIS5AGN8)

Disease Name	Joubert syndrome 37
Synonyms	JBTS37; Joubert syndrome 37
Disease Hierarchy	DIS7P5CO: Joubert syndrome DIS5AGN8: Joubert syndrome 37
Disease Identifiers	MONDO ID MONDO_0030933 UMLS CUI C5543064 OMIM ID 619185 MedGen ID 1786742

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
TOGARAM1	OTG6CYJ0	Strong	Autosomal recessive	[1]
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References

1	Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest. 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656.