Details of Disease

General Information of Disease (ID: DIS1TGGQ)

Disease Name Joubert syndrome 31
Synonyms JBTS31; Joubert syndrome 31
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DIS1TGGQ: Joubert syndrome 31
Disease Identifiers
MONDO ID
MONDO_0033310
UMLS CUI
C4540355
OMIM ID
617761
MedGen ID
1618082

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
CEP120 OT1ZMRHL Strong Autosomal recessive [1]
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References

1 Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors. PLoS One. 2014 Sep 24;9(9):e107943. doi: 10.1371/journal.pone.0107943. eCollection 2014.