Details of Disease | DrugMAP

General Information of Disease (ID: DISSOD3T)

Disease Name	Immunodeficiency, common variable, 14
Synonyms	CVID14; immunodeficiency, COMMON variable, 14; immunodeficiency, common variable, 14
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISSOD3T: Immunodeficiency, common variable, 14
Disease Identifiers	MONDO ID MONDO_0054691 UMLS CUI C4540380 OMIM ID 617765 MedGen ID 1614928

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
IRF2BP2	OTSSRRCA	Limited	Autosomal dominant	[1]
------------------------------------------------------------------------------------

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.