Details of Disease

General Information of Disease (ID: DISFOD7V)

Disease Name Immunodeficiency 85 and autoimmunity
Synonyms IMD85
Disease Hierarchy
DIS093I0: Immunodeficiency
DISFOD7V: Immunodeficiency 85 and autoimmunity
Disease Identifiers
MONDO ID
MONDO_0030428
UMLS CUI
C5561976
OMIM ID
619510
MedGen ID
1794186

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
TOM1 OT30QA56 Limited Unknown [1]
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References

1 Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease. NPJ Genom Med. 2019 Jun 27;4:14. doi: 10.1038/s41525-019-0088-5. eCollection 2019.