recurrent respiratory infections Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. (Human Phenotype Ontology, HP_0002205)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002205
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Genes

275 genes associated with the recurrent respiratory 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
ADAMTSL2 ADAMTS-like 2
AGA aspartylglucosaminidase
AICDA activation-induced cytidine deaminase
AK2 adenylate kinase 2
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALPL alkaline phosphatase, liver/bone/kidney
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
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
BTK Bruton agammaglobulinemia tyrosine kinase
C1R complement component 1, r subcomponent
C21ORF59 chromosome 21 open reading frame 59
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
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CD8A CD8a molecule
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
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
COG4 component of oligomeric golgi complex 4
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
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
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
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELANE elastase, neutrophil expressed
ELN elastin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCN3 ficolin (collagen/fibrinogen domain containing) 3
FLNA filamin A, alpha
FMO3 flavin containing monooxygenase 3
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
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HACD1 3-hydroxyacyl-CoA dehydratase 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
HYDIN HYDIN, axonemal central pair apparatus protein
ICOS inducible T-cell co-stimulator
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
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL21 interleukin 21
IL21R interleukin 21 receptor
IL2RG interleukin 2 receptor, gamma
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
JAGN1 jagunal homolog 1 (Drosophila)
JAK3 Janus kinase 3
KAT6B K(lysine) acetyltransferase 6B
KIAA0196 KIAA0196
LAMA3 laminin, alpha 3
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
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
LRRC6 leucine rich repeat containing 6
LRRC8A leucine rich repeat containing 8 family, member A
LYST lysosomal trafficking regulator
MALT1 MALT1 paracaspase
MANBA mannosidase, beta A, lysosomal
MAPK1 mitogen-activated protein kinase 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCM4 minichromosome maintenance complex component 4
MECP2 methyl CpG binding protein 2
MGP matrix Gla protein
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO5A myosin VA (heavy chain 12, myoxin)
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
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
PEPD peptidase D
PGM3 phosphoglucomutase 3
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLG plasminogen
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLP1 proteolipid protein 1
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
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
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
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)
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
SFTPC surfactant protein C
SGSH N-sulfoglucosamine sulfohydrolase
SH2D1A SH2 domain containing 1A
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
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
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
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)
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
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
TGM1 transglutaminase 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
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAF3IP2 TRAF3 interacting protein 2
TRPS1 trichorhinophalangeal syndrome I
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYK2 tyrosine kinase 2
UMPS uridine monophosphate synthetase
UNC119 unc-119 homolog (C. elegans)
UNG uracil-DNA glycosylase
USB1 U6 snRNA biogenesis 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
ZBTB24 zinc finger and BTB domain containing 24
ZMYND10 zinc finger, MYND-type containing 10