Details of Disease | DrugMAP

General Information of Disease (ID: DIS2KVQH)

Disease Name	Joubert syndrome 13
Synonyms	Joubert syndrome 13; JBTS13; Joubert syndrome caused by mutation in TCTN1; Joubert syndrome type 13; TCTN1 Joubert syndrome
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.
Disease Hierarchy	DIS7P5CO: Joubert syndrome DIS2KVQH: Joubert syndrome 13
Disease Identifiers	MONDO ID MONDO_0013608 UMLS CUI C3280031 OMIM ID 614173 MedGen ID 481661

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
TCTN1	OTG5KEV8	Strong	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.