abnormality of cellular immune system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the morphology or counts of the cells that make up the immune system. (Human Phenotype Ontology, HP_0010987)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010987
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Genes

350 genes associated with the abnormality of cellular immune system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACP5 acid phosphatase 5, tartrate resistant
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
AGA aspartylglucosaminidase
AICDA activation-induced cytidine deaminase
AK2 adenylate kinase 2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARHGAP26 Rho GTPase activating protein 26
ARHGAP31 Rho GTPase activating protein 31
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
ATM ATM serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B2M beta-2-microglobulin
BAG3 BCL2-associated athanogene 3
BAX BCL2-associated X protein
BCL3 B-cell CLL/lymphoma 3
BCR breakpoint cluster region
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CALR calreticulin
CAPN3 calpain 3, (p94)
CARD11 caspase recruitment domain family, member 11
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCBE1 collagen and calcium binding EGF domains 1
CD19 CD19 molecule
CD247 CD247 molecule
CD27 CD27 molecule
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
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
CD8A CD8a molecule
CDSN corneodesmosin
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CECR1 cat eye syndrome chromosome region, candidate 1
CEP57 centrosomal protein 57kDa
CES1 carboxylesterase 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CIITA class II, major histocompatibility complex, transactivator
CLCN7 chloride channel, voltage-sensitive 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CNBP CCHC-type zinc finger, nucleic acid binding protein
COG6 component of oligomeric golgi complex 6
COL1A1 collagen, type I, alpha 1
CORO1A coronin, actin binding protein, 1A
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTC1 CTS telomere maintenance complex component 1
CXCR4 chemokine (C-X-C motif) receptor 4
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DCLRE1C DNA cross-link repair 1C
DCTN4 dynactin 4 (p62)
DES desmin
DKC1 dyskeratosis congenita 1, dyskerin
DMD dystrophin
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
DOLK dolichol kinase
DSG2 desmoglein 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELANE elastase, neutrophil expressed
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC6L2 excision repair cross-complementation group 6-like 2
ERMAP erythroblast membrane-associated protein (Scianna blood group)
ETV6 ets variant 6
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FAT4 FAT atypical cadherin 4
FBXL4 F-box and leucine-rich repeat protein 4
FERMT3 fermitin family member 3
FHL2 four and a half LIM domains 2
FKTN fukutin
FLT3 fms-related tyrosine kinase 3
FMO3 flavin containing monooxygenase 3
FTCD formimidoyltransferase cyclodeaminase
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATAD1 GATA zinc finger domain containing 1
GBA glucosidase, beta, acid
GFI1 growth factor independent 1 transcription repressor
GLB1 galactosidase, beta 1
GMPS guanine monphosphate synthase
GPI glucose-6-phosphate isomerase
GSS glutathione synthetase
GTF2H5 general transcription factor IIH, polypeptide 5
HAX1 HCLS1 associated protein X-1
HLA-B major histocompatibility complex, class I, B
ICOS inducible T-cell co-stimulator
IFIH1 interferon induced with helicase C domain 1
IGHM immunoglobulin heavy constant mu
IGHV4-34 immunoglobulin heavy variable 4-34
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
IL7R interleukin 7 receptor
IRAK4 interleukin-1 receptor-associated kinase 4
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITK IL2-inducible T-cell kinase
IVD isovaleryl-CoA dehydrogenase
JAGN1 jagunal homolog 1 (Drosophila)
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLHDC8B kelch domain containing 8B
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT9 keratin 9, type I
LAMA4 laminin, alpha 4
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LBR lamin B receptor
LDB3 LIM domain binding 3
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LMBRD1 LMBR1 domain containing 1
LMNB2 lamin B2
LPIN2 lipin 2
LPP LIM domain containing preferred translocation partner in lipoma
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRC8A leucine rich repeat containing 8 family, member A
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1
LYST lysosomal trafficking regulator
MAGT1 magnesium transporter 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEFV Mediterranean fever
MLF1 myeloid leukemia factor 1
MLH1 mutL homolog 1
MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MOGS mannosyl-oligosaccharide glucosidase
MPL MPL proto-oncogene, thrombopoietin receptor
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYB v-myb avian myeloblastosis viral oncogene homolog
MYBPC3 myosin binding protein C, cardiac
MYD88 myeloid differentiation primary response 88
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYPN myopalladin
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NEU1 sialidase 1 (lysosomal sialidase)
NEXN nexilin (F actin binding protein)
NF1 neurofibromin 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUP214 nucleoporin 214kDa
PALB2 partner and localizer of BRCA2
PBX1 pre-B-cell leukemia homeobox 1
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PGM3 phosphoglucomutase 3
PICALM phosphatidylinositol binding clathrin assembly protein
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
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)
PLN phospholamban
PMM2 phosphomannomutase 2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
PRDM16 PR domain containing 16
PRF1 perforin 1 (pore forming protein)
PRKCD protein kinase C, delta
PSEN1 presenilin 1
PSEN2 presenilin 2
PSG1 pregnancy specific beta-1-glycoprotein 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRC protein tyrosine phosphatase, receptor type, C
PTRF polymerase I and transcript release factor
RAB27A RAB27A, member RAS oncogene family
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RARA retinoic acid receptor, alpha
RB1 retinoblastoma 1
RBM20 RNA binding motif protein 20
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
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
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS7 ribosomal protein S7
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
SALL4 spalt-like transcription factor 4
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SCARB2 scavenger receptor class B, member 2
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETX senataxin
SFTPA2 surfactant protein A2
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SH2B3 SH2B adaptor protein 3
SH2D1A SH2 domain containing 1A
SH3GL1 SH3-domain GRB2-like 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SP110 SP110 nuclear body protein
SPINK5 serine peptidase inhibitor, Kazal type 5
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK4 serine/threonine kinase 4
STS steroid sulfatase (microsomal), isozyme S
STX11 syntaxin 11
STX1A syntaxin 1A (brain)
STXBP2 syntaxin binding protein 2
TAZ tafazzin
TBX1 T-box 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCAP titin-cap
TCF3 transcription factor 3
TCN2 transcobalamin II
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFB1 transforming growth factor, beta 1
THPO thrombopoietin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLX1 T-cell leukemia homeobox 1
TMEM173 transmembrane protein 173
TMPO thymopoietin
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
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TP53 tumor protein p53
TPM1 tropomyosin 1 (alpha)
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TTN titin
TXNRD2 thioredoxin reductase 2
TYK2 tyrosine kinase 2
TYROBP TYRO protein tyrosine kinase binding protein
UMPS uridine monophosphate synthetase
UNC119 unc-119 homolog (C. elegans)
UNC13D unc-13 homolog D (C. elegans)
UNG uracil-DNA glycosylase
USB1 U6 snRNA biogenesis 1
VCL vinculin
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1
WIPF1 WAS/WASL interacting protein family, member 1
WRAP53 WD repeat containing, antisense to TP53
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