Details of Disease | DrugMAP

General Information of Disease (ID: DISSHNT9)

Disease Name	Immunodeficiency, common variable, 7
Synonyms	CVID7; immunodeficiency, common variable, type 7; immunodeficiency, common variable, 7
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISSHNT9: Immunodeficiency, common variable, 7
Disease Identifiers	MONDO ID MONDO_0013862 UMLS CUI C3542922 OMIM ID 614699 MedGen ID 762276

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CR2	TT0HUN7	moderate	Biomarker	[1]
CR2	TT0HUN7	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CR2	OT90NDLY	Definitive	Autosomal recessive	[2]
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References

1	CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities.Clin Immunol. 2015 Dec;161(2):120-7. doi: 10.1016/j.clim.2015.08.010. Epub 2015 Aug 30.
2	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.