Details of Disease | DrugMAP

General Information of Disease (ID: DIS5OYYJ)

Disease Name	Joubert syndrome 27
Synonyms	Joubert syndrome caused by mutation in B9D1; Joubert syndrome 27; JBTS27; B9D1 Joubert syndrome; Joubert syndrome type 27
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.
Disease Hierarchy	DIS7P5CO: Joubert syndrome DIS5OYYJ: Joubert syndrome 27
Disease Identifiers	MONDO ID MONDO_0014927 UMLS CUI C4310706 OMIM ID 617120 MedGen ID 934673

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
B9D1	OTWTXO75	Strong	Autosomal recessive	[1]
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References

1	B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. Hum Mol Genet. 2011 Jul 1;20(13):2524-34. doi: 10.1093/hmg/ddr151. Epub 2011 Apr 14.