Details of Disease

General Information of Disease (ID: DISIWDGC)

Disease Name Joubert syndrome 36
Synonyms JBTS36; JOUBERT SYNDROME 36
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DISIWDGC: Joubert syndrome 36
Disease Identifiers
MONDO ID
MONDO_0032902
UMLS CUI
C5231493
OMIM ID
618763
MedGen ID
1684786

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
FAM149B1 OTUBPEJ6 Strong Autosomal recessive [1]
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References

1 Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. Am J Hum Genet. 2019 Apr 4;104(4):731-737. doi: 10.1016/j.ajhg.2019.02.018. Epub 2019 Mar 21.