Details of Disease | DrugMAP

General Information of Disease (ID: DIS9ALLL)

Disease Name	Proteasome-associated autoinflammatory syndrome 4
Synonyms	PRAAS4; proteasome-associated autoinflammatory syndrome 4
Disease Hierarchy	DISH7RJO: Proteosome-associated autoinflammatory syndrome DIS9ALLL: Proteasome-associated autoinflammatory syndrome 4
Disease Identifiers	MONDO ID MONDO_0030931 UMLS CUI C5543053 OMIM ID 619183 MedGen ID 1780127

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
PSMG2	OTEMF20S	Limited	Unknown	[1]
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References

1	Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. J Allergy Clin Immunol. 2019 May;143(5):1939-1943.e8. doi: 10.1016/j.jaci.2018.12.1012. Epub 2019 Jan 18.