Details of Disease | DrugMAP

General Information of Disease (ID: DISX5V7P)

Disease Name	Joubert syndrome 28
Synonyms	Joubert syndrome caused by mutation in MKS1; Joubert syndrome 28; Joubert syndrome type 28; JBTS28; MKS1 Joubert syndrome
Definition	Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.
Disease Hierarchy	DISDJVUI: Joubert syndrome with ocular defect DIS7P5CO: Joubert syndrome DISX5V7P: Joubert syndrome 28
Disease Identifiers	MONDO ID MONDO_0014928 UMLS CUI C4310705 OMIM ID 617121 MedGen ID 934672

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
LPO	DEHX1DZ	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MKS1	OT83W5PB	Strong	Autosomal recessive	[1]
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References

1	Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat. 2007 May;28(5):523-4. doi: 10.1002/humu.9489.