Details of Disease | DrugMAP

General Information of Disease (ID: DISADFYC)

Disease Name	Joubert syndrome 23
Synonyms	Joubert syndrome type 23; Joubert syndrome 23; JBTS23; KIAA0586 Joubert syndrome; Joubert syndrome caused by mutation in KIAA0586
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.
Disease Hierarchy	DIS7P5CO: Joubert syndrome DISADFYC: Joubert syndrome 23
Disease Identifiers	MONDO ID MONDO_0014664 UMLS CUI C4084822 OMIM ID 616490 MedGen ID 900119

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
KIAA0586	OTOZRC1U	Definitive	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.