recurrent infections Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection. (Human Phenotype Ontology, HP_0002719)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002719
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Genes

401 genes associated with the recurrent infections phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ACP5 acid phosphatase 5, tartrate resistant
ACTA1 actin, alpha 1, skeletal muscle
ADA adenosine deaminase
ADAMTSL2 ADAMTS-like 2
ADNP activity-dependent neuroprotector homeobox
AGA aspartylglucosaminidase
AICDA activation-induced cytidine deaminase
AIRE autoimmune regulator
AK2 adenylate kinase 2
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALPL alkaline phosphatase, liver/bone/kidney
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APRT adenine phosphoribosyltransferase
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARMC4 armadillo repeat containing 4
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATM ATM serine/threonine kinase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BIRC3 baculoviral IAP repeat containing 3
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BMPR1A bone morphogenetic protein receptor, type IA
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
C1QA complement component 1, q subcomponent, A chain
C1QB complement component 1, q subcomponent, B chain
C1QC complement component 1, q subcomponent, C chain
C1R complement component 1, r subcomponent
C21ORF59 chromosome 21 open reading frame 59
C3 complement component 3
C5 complement component 5
C6 complement component 6
C7 complement component 7
C8B complement component 8, beta polypeptide
CARD11 caspase recruitment domain family, member 11
CARD9 caspase recruitment domain family, member 9
CASP8 caspase 8, apoptosis-related cysteine peptidase
CCBE1 collagen and calcium binding EGF domains 1
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC151 coiled-coil domain containing 151
CCDC22 coiled-coil domain containing 22
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
CD19 CD19 molecule
CD247 CD247 molecule
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD3G CD3g molecule, gamma (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
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CFD complement factor D (adipsin)
CFH complement factor H
CFI complement factor I
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHRM3 cholinergic receptor, muscarinic 3
CIITA class II, major histocompatibility complex, transactivator
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLDN16 claudin 16
CLDN19 claudin 19
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CORO1A coronin, actin binding protein, 1A
CR2 complement component (3d/Epstein Barr virus) receptor 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSC cathepsin C
CXCR4 chemokine (C-X-C motif) receptor 4
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCLRE1C DNA cross-link repair 1C
DCTN4 dynactin 4 (p62)
DDR2 discoidin domain receptor tyrosine kinase 2
DEAF1 DEAF1 transcription factor
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DLL3 delta-like 3 (Drosophila)
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK8 dedicator of cytokinesis 8
DRC1 dynein regulatory complex subunit 1
DSG1 desmoglein 1
DYX1C1 dyslexia susceptibility 1 candidate 1
ECM1 extracellular matrix protein 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELANE elastase, neutrophil expressed
ELN elastin
EPCAM epithelial cell adhesion molecule
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
EXT1 exostosin glycosyltransferase 1
FADD Fas (TNFRSF6)-associated via death domain
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
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCN3 ficolin (collagen/fibrinogen domain containing) 3
FERMT3 fermitin family member 3
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMO3 flavin containing monooxygenase 3
FOXC2 forkhead box C2
FOXP1 forkhead box P1
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GALNS galactosamine (N-acetyl)-6-sulfatase
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GJB2 gap junction protein, beta 2, 26kDa
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HACD1 3-hydroxyacyl-CoA dehydratase 1
HAX1 HCLS1 associated protein X-1
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HOXA13 homeobox A13
HPSE2 heparanase 2 (inactive)
HYAL1 hyaluronoglucosaminidase 1
HYDIN HYDIN, axonemal central pair apparatus protein
ICOS inducible T-cell co-stimulator
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10RA interleukin 10 receptor, alpha
IL10RB interleukin 10 receptor, beta
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL21 interleukin 21
IL21R interleukin 21 receptor
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
IRAK4 interleukin-1 receptor-associated kinase 4
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA7 integrin, alpha 7
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITK IL2-inducible T-cell kinase
JAGN1 jagunal homolog 1 (Drosophila)
JAK3 Janus kinase 3
KAT6B K(lysine) acetyltransferase 6B
KCTD1 potassium channel tetramerization domain containing 1
KIAA0196 KIAA0196
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA3 laminin, alpha 3
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LBR lamin B receptor
LCK LCK proto-oncogene, Src family tyrosine kinase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRRC6 leucine rich repeat containing 6
LRRC8A leucine rich repeat containing 8 family, member A
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LYST lysosomal trafficking regulator
MAGT1 magnesium transporter 1
MALT1 MALT1 paracaspase
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAPK1 mitogen-activated protein kinase 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCM4 minichromosome maintenance complex component 4
MECP2 methyl CpG binding protein 2
MGME1 mitochondrial genome maintenance exonuclease 1
MGP matrix Gla protein
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MNX1 motor neuron and pancreas homeobox 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO5A myosin VA (heavy chain 12, myoxin)
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGLU N-acetylglucosaminidase, alpha
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NDN necdin, melanoma antigen (MAGE) family member
NELFA negative elongation factor complex member A
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NKX2-1 NK2 homeobox 1
NME8 NME/NM23 family member 8
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NOTCH3 notch 3
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORAI1 ORAI calcium release-activated calcium modulator 1
ORC6 origin recognition complex, subunit 6
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PEPD peptidase D
PGM3 phosphoglucomutase 3
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)
PLG plasminogen
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
POLE polymerase (DNA directed), epsilon, catalytic subunit
PRKCD protein kinase C, delta
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PSAP prosaposin
PSEN1 presenilin 1
PSENEN presenilin enhancer gamma secretase subunit
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
PTRF polymerase I and transcript release factor
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB27A RAB27A, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD51C RAD51 paralog C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RFC2 replication factor C (activator 1) 2, 40kDa
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
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGR retinitis pigmentosa GTPase regulator
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SBDS Shwachman-Bodian-Diamond syndrome
SCN9A sodium channel, voltage gated, type IX alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SEPN1 selenoprotein N, 1
SERAC1 serine active site containing 1
SFTPC surfactant protein C
SGSH N-sulfoglucosamine sulfohydrolase
SH2D1A SH2 domain containing 1A
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMN1 survival of motor neuron 1, telomeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOX11 SRY (sex determining region Y)-box 11
SPAG1 sperm associated antigen 1
SPINK5 serine peptidase inhibitor, Kazal type 5
SRCAP Snf2-related CREBBP activator protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIM1 stromal interaction molecule 1
STK4 serine/threonine kinase 4
STX1A syntaxin 1A (brain)
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TAZ tafazzin
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX6 T-box 6
TCF3 transcription factor 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN3 tectonic family member 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
THOC6 THO complex 6
TICAM1 toll-like receptor adaptor molecule 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
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
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNXB tenascin XB
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAC T cell receptor alpha constant
TRAF3IP2 TRAF3 interacting protein 2
TRPS1 trichorhinophalangeal syndrome I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYK2 tyrosine kinase 2
UBE3B ubiquitin protein ligase E3B
UMPS uridine monophosphate synthetase
UNC119 unc-119 homolog (C. elegans)
UNC93B1 unc-93 homolog B1 (C. elegans)
UNG uracil-DNA glycosylase
USB1 U6 snRNA biogenesis 1
VANGL1 VANGL planar cell polarity protein 1
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WIPF1 WAS/WASL interacting protein family, member 1
WNT5A wingless-type MMTV integration site family, member 5A
WRAP53 WD repeat containing, antisense to TP53
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB24 zinc finger and BTB domain containing 24
ZMYND10 zinc finger, MYND-type containing 10