Details of Disease

General Information of Disease (ID: DISKKZ45)

Disease Name Immunodeficiency 89 and autoimmunity
Synonyms IMD89
Disease Hierarchy
DIS093I0: Immunodeficiency
DISKKZ45: Immunodeficiency 89 and autoimmunity
Disease Identifiers
MONDO ID
MONDO_0030484
UMLS CUI
C5562027
OMIM ID
619632
MedGen ID
1794237

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
CARD10 OT2RPM4I Limited Unknown [1]
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References

1 Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity. Cell Mol Immunol. 2020 Jul;17(7):782-784. doi: 10.1038/s41423-020-0423-x. Epub 2020 Apr 1.