abnormality of b cell physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the physiological functioning of B cells. (Human Phenotype Ontology, HP_0005372)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005372
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Genes

110 genes associated with the abnormality of b cell physiology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADA adenosine deaminase
AICDA activation-induced cytidine deaminase
AK2 adenylate kinase 2
ATM ATM serine/threonine kinase
B2M beta-2-microglobulin
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BTK Bruton agammaglobulinemia tyrosine kinase
CARD11 caspase recruitment domain family, member 11
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CCBE1 collagen and calcium binding EGF domains 1
CD19 CD19 molecule
CD27 CD27 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CDSN corneodesmosin
CECR1 cat eye syndrome chromosome region, candidate 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CIITA class II, major histocompatibility complex, transactivator
CNBP CCHC-type zinc finger, nucleic acid binding protein
COG6 component of oligomeric golgi complex 6
COL1A1 collagen, type I, alpha 1
CR2 complement component (3d/Epstein Barr virus) receptor 2
CXCR4 chemokine (C-X-C motif) receptor 4
DCLRE1C DNA cross-link repair 1C
DCTN4 dynactin 4 (p62)
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK8 dedicator of cytokinesis 8
ELANE elastase, neutrophil expressed
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERMAP erythroblast membrane-associated protein (Scianna blood group)
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FAT4 FAT atypical cadherin 4
GBA glucosidase, beta, acid
GTF2H5 general transcription factor IIH, polypeptide 5
ICOS inducible T-cell co-stimulator
IFIH1 interferon induced with helicase C domain 1
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL21 interleukin 21
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
ITK IL2-inducible T-cell kinase
JAK3 Janus kinase 3
KLHDC8B kelch domain containing 8B
KRT1 keratin 1, type II
KRT9 keratin 9, type I
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRC8A leucine rich repeat containing 8 family, member A
MAN2B1 mannosidase, alpha, class 2B, member 1
MOGS mannosyl-oligosaccharide glucosidase
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
NBN nibrin
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHEJ1 nonhomologous end-joining factor 1
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PMM2 phosphomannomutase 2
PNP purine nucleoside phosphorylase
PRKCD protein kinase C, delta
PSG1 pregnancy specific beta-1-glycoprotein 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTRF polymerase I and transcript release factor
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBM8A RNA binding motif protein 8A
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
SCARB2 scavenger receptor class B, member 2
SETX senataxin
SFTPA2 surfactant protein A2
SH2D1A SH2 domain containing 1A
SLC46A1 solute carrier family 46 (folate transporter), member 1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SP110 SP110 nuclear body protein
SPINK5 serine peptidase inhibitor, Kazal type 5
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STX1A syntaxin 1A (brain)
TCF3 transcription factor 3
TCN2 transcobalamin II
TGFB1 transforming growth factor, beta 1
TMEM173 transmembrane protein 173
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
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TYK2 tyrosine kinase 2
UNG uracil-DNA glycosylase
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB24 zinc finger and BTB domain containing 24