Details of Disease

General Information of Disease (ID: DISUEZRX)

Disease Name Senior-Loken syndrome 9
Synonyms Senior-Loken syndrome type 9; SLSN9; Senior-Loken syndrome 9; Senior-Loken syndrome 9; SLSN9; Senior-Loken syndrome caused by mutation in TRAF3IP1; TRAF3IP1 Senior-Loken syndrome
Definition Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.
Disease Hierarchy
DISGBSGP: Senior-Loken syndrome
DISUEZRX: Senior-Loken syndrome 9
Disease Identifiers
MONDO ID
MONDO_0014712
UMLS CUI
C4225263
OMIM ID
616629
MedGen ID
899086

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
TRAF3IP1 OTLCC64B Definitive Autosomal recessive [1]
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References

1 Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Nat Commun. 2015 Oct 21;6:8666. doi: 10.1038/ncomms9666.