agammaglobulinemia 7

Summary
Definition
An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13.
Super Class
agammaglobulinemia autosomal recessive disease
External Links
Disease Ontology
DOID:0081139
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
18708 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25513 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024