Details of Disease

General Information of Disease (ID: DIS5EAGO)

Disease Name Immunodeficiency 60
Synonyms Immunodeficiency and Autoimmunity, Bach2-Related; IMD60; IMMUNODEFICIENCY 60; immunodeficiency 60 and autoimmunity
Disease Hierarchy
DIS093I0: Immunodeficiency
DIS5EAGO: Immunodeficiency 60
Disease Identifiers
MONDO ID
MONDO_0032723
UMLS CUI
C5193072
OMIM ID
618394
MedGen ID
1681890

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
BACH2 OT17GS18 Strong Autosomal dominant [1]
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References

1 BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. Nat Immunol. 2017 Jul;18(7):813-823. doi: 10.1038/ni.3753. Epub 2017 May 22.