Details of Disease

General Information of Disease (ID: DIS0GVFL)

Disease Name Autoinflammatory disease, multisystem, with immune dysregulation, X-linked
Disease Hierarchy
DISCMCGL: Autoinflammatory syndrome
DIS8I9FS: Hereditary disorder of connective tissue
DIS0GVFL: Autoinflammatory disease, multisystem, with immune dysregulation, X-linked
Disease Identifiers
MONDO ID
MONDO_0957494
UMLS CUI
C5829577
OMIM ID
301109
MedGen ID
1840213

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
DOCK11 OTFSTN6A Limited X-linked [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.