Details of Disease | DrugMAP

General Information of Disease (ID: DISPA7XW)

Disease Name	Proteasome-associated autoinflammatory syndrome 2
Synonyms	PRAAS2; proteasome-associated autoinflammatory syndrome 2
Disease Hierarchy	DISH7RJO: Proteosome-associated autoinflammatory syndrome DISPA7XW: Proteasome-associated autoinflammatory syndrome 2
Disease Identifiers	MONDO ID MONDO_0054700 UMLS CUI C4747989 OMIM ID 618048 MedGen ID 1648482

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
POMP	OTMPM1P5	Strong	Autosomal dominant	[1]
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References

1	Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20.