agammaglobulinemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A B cell deficiency that is caused by a reduction in all types of gamma globulins. (Human Disease Ontology, DOID_2583)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004432
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Genes

14 genes associated with the agammaglobulinemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BLNK B-cell linker
BTK Bruton agammaglobulinemia tyrosine kinase
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CIITA class II, major histocompatibility complex, transactivator
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IL2RG interleukin 2 receptor, gamma
LRRC8A leucine rich repeat containing 8 family, member A
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein