General Information of Disease (ID: DIS3I982)

Disease Name Proteasome-associated autoinflammatory syndrome 5
Synonyms PRAAS5; proteasome-associated autoinflammatory syndrome 5
Disease Hierarchy
DISH7RJO: Proteosome-associated autoinflammatory syndrome
DIS3I982: Proteasome-associated autoinflammatory syndrome 5
Disease Identifiers
MONDO ID
MONDO_0030924
UMLS CUI
C5543027
OMIM ID
619175
MedGen ID
1779962

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PSMB10 TTPNACM Limited Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PSMB10 OTURUR9B Limited Unknown [1]
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References

1 A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family. Europace. 2018 Dec 1;20(12):2003-2013. doi: 10.1093/europace/euy127.