Details of Disease | DrugMAP

General Information of Disease (ID: DIS9170N)

Disease Name	Joubert syndrome 32
Synonyms	JBTS32; Joubert syndrome 32
Disease Hierarchy	DIS7P5CO: Joubert syndrome DIS9170N: Joubert syndrome 32
Disease Identifiers	MONDO ID MONDO_0033309 UMLS CUI C4540342 OMIM ID 617757 MedGen ID 1626697

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
SUFU	OT0IRYG1	Strong	Autosomal recessive	[1]
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References

1	Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28.