Details of Disease | DrugMAP

General Information of Disease (ID: DISKEQGK)

Disease Name	Immunodeficiency, common variable, 4
Synonyms	CVID4; antibody deficiency due to Baffr defect; immunodeficiency, common variable, 4; immunodeficiency, common variable, type 4
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISKEQGK: Immunodeficiency, common variable, 4
Disease Identifiers	MONDO ID MONDO_0013284 UMLS CUI C3150739 OMIM ID 613494 MedGen ID 462089

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TNFRSF13C	TT7NJSE	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNFRSF13C	OTW0DE8Q	Limited	Autosomal recessive	[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.