iga deficiency Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. (Human Disease Ontology, DOID_0060025)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002720
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Genes

16 genes associated with the iga deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AICDA activation-induced cytidine deaminase
ATM ATM serine/threonine kinase
BLM Bloom syndrome, RecQ helicase-like
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CR2 complement component (3d/Epstein Barr virus) receptor 2
ICOS inducible T-cell co-stimulator
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL2RA interleukin 2 receptor, alpha
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PMM2 phosphomannomutase 2
PTRF polymerase I and transcript release factor
TCN2 transcobalamin II
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
UNG uracil-DNA glycosylase