Details of Disease

General Information of Disease (ID: DISBJ7JK)

Disease Name Immunodeficiency 61
Synonyms agammaglobulinemia, X-linked, type 2; agammaglobulinemia X-linked type 2; XLA2; immunodeficiency 61, X-linked recessive; AGMX2
Disease Hierarchy
DISXMS80: Agammaglobulinemia
DISBJ7JK: Immunodeficiency 61
Disease Identifiers
MONDO ID
MONDO_0010296
MESH ID
C538057
UMLS CUI
C1845903
OMIM ID
300310
MedGen ID
337462

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
SH3KBP1 OTIUA60B Limited X-linked [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.