Details of Disease

General Information of Disease (ID: DISDVWSC)

Disease Name Immunodeficiency 75
Synonyms IMD75; immunodeficiency 75
Disease Hierarchy
DIS093I0: Immunodeficiency
DISDVWSC: Immunodeficiency 75
Disease Identifiers
MONDO ID
MONDO_0030858
UMLS CUI
C5436860
OMIM ID
619126
MedGen ID
1741014

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
TET2 OTKKT03T Strong Autosomal recessive [1]
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References

1 Germline TET2 loss of function causes childhood immunodeficiency and lymphoma. Blood. 2020 Aug 27;136(9):1055-1066. doi: 10.1182/blood.2020005844.