Details of Disease

General Information of Disease (ID: DIS9MITO)

Disease Name Immunodeficiency 70
Synonyms IMMUNODEFICIENCY 70; IMD70
Disease Hierarchy
DIS093I0: Immunodeficiency
DIS9MITO: Immunodeficiency 70
Disease Identifiers
MONDO ID
MONDO_0033542
UMLS CUI
C5436501
OMIM ID
618969
MedGen ID
1740270

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
IVNS1ABP OTYHL4I7 Limited Autosomal dominant [1]
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References

1 Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6.