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Standards Ontologies Notations
common variable immunodeficiency 14

Summary
Definition
A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42.
Super Class
autosomal dominant disease common variable immunodeficiency
Disease Ontology
DOID:0081156
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
359948 IRF2BP2 interferon regulatory factor 2 binding protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
270110 Irf2bp2 interferon regulatory factor 2 binding protein 2
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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024