Agammaglobulinemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A B cell deficiency that is caused by a reduction in all types of gamma globulins. (Human Disease Ontology, DOID_2583)
External Link https://www.disgenet.org/browser/0/1/0/C0001768
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Genes

102 genes associated with the disease Agammaglobulinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACP3 acid phosphatase 3
AICDA activation-induced cytidine deaminase
AKAP17A A kinase (PRKA) anchor protein 17A
ALB albumin
APCS amyloid P component, serum
ARR3 arrestin 3, retinal (X-arrestin)
BCR breakpoint cluster region
BLNK B-cell linker
BTK Bruton agammaglobulinemia tyrosine kinase
CASR calcium-sensing receptor
CCL22 chemokine (C-C motif) ligand 22
CD14 CD14 molecule
CD19 CD19 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD80 CD80 molecule
CD83 CD83 molecule
CD99 CD99 molecule
CDCA7 cell division cycle associated 7
CIITA class II, major histocompatibility complex, transactivator
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CXADR coxsackie virus and adenovirus receptor
CXCR4 chemokine (C-X-C motif) receptor 4
CYBB cytochrome b-245, beta polypeptide
DCLRE1C DNA cross-link repair 1C
DNALI1 dynein, axonemal, light intermediate chain 1
ELANE elastase, neutrophil expressed
ELF4 E74-like factor 4 (ets domain transcription factor)
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FLG filaggrin
FOXM1 forkhead box M1
GAST gastrin
GFI1 growth factor independent 1 transcription repressor
GLA galactosidase, alpha
GRP gastrin-releasing peptide
HELLS helicase, lymphoid-specific
HPGDS hematopoietic prostaglandin D synthase
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNGR1 interferon gamma receptor 1
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IL10 interleukin 10
IL1B interleukin 1, beta
IL2RG interleukin 2 receptor, gamma
IL4 interleukin 4
IL6 interleukin 6
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4
ITK IL2-inducible T-cell kinase
LAG3 lymphocyte-activation gene 3
LBR lamin B receptor
LRRC8A leucine rich repeat containing 8 family, member A
NCF1 neutrophil cytosolic factor 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NLRP3 NLR family, pyrin domain containing 3
NR1I3 nuclear receptor subfamily 1, group I, member 3
NT5E 5'-nucleotidase, ecto (CD73)
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLEK pleckstrin
POLR3E polymerase (RNA) III (DNA directed) polypeptide E (80kD)
POU2AF1 POU class 2 associating factor 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTPRC protein tyrosine phosphatase, receptor type, C
RAG1 recombination activating gene 1
RBMS1 RNA binding motif, single stranded interacting protein 1
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RNF216 ring finger protein 216
SH2D1A SH2 domain containing 1A
SH3KBP1 SH3-domain kinase binding protein 1
SLC39A7 solute carrier family 39 (zinc transporter), member 7
SOCS1 suppressor of cytokine signaling 1
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SRC SRC proto-oncogene, non-receptor tyrosine kinase
TCF3 transcription factor 3
TCN2 transcobalamin II
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TLR9 toll-like receptor 9
TMEM132D transmembrane protein 132D
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF17 tumor necrosis factor receptor superfamily, member 17
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TRIM13 tripartite motif containing 13
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)