Details of Disease

General Information of Disease (ID: DISIUBWI)

Disease Name Joubert syndrome 39
Synonyms JBTS39
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DISIUBWI: Joubert syndrome 39
Disease Identifiers
MONDO ID
MONDO_0030454
UMLS CUI
C5562000
OMIM ID
619562
MedGen ID
1794210

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
TMEM218 OTM46L89 Strong Autosomal recessive [1]
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References

1 Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-L?ken syndrome?. Vet Pathol. 2015 May;52(3):580-95. doi: 10.1177/0300985814547392. Epub 2014 Aug 26.