abnormality of the thorax Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). (Human Phenotype Ontology, HP_0000765)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000765
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Genes

365 genes associated with the abnormality of the thorax phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
HLA-DRA major histocompatibility complex, class II, DR alpha 3.58248
IL23R interleukin 23 receptor 2.70176
STAT4 signal transducer and activator of transcription 4 2.45852
C6ORF10 chromosome 6 open reading frame 10 2.41337
LPP LIM domain containing preferred translocation partner in lipoma 2.40453
ATG16L1 autophagy related 16-like 1 (S. cerevisiae) 2.2832
NOTCH4 notch 4 2.26447
TNXB tenascin XB 2.18646
KIAA1109 KIAA1109 2.15575
OTUD3 OTU deubiquitinase 3 2.03027
ATXN2 ataxin 2 1.99969
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 1.97257
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 1.97023
ERBB3 erb-b2 receptor tyrosine kinase 3 1.97023
BAG6 BCL2-associated athanogene 6 1.93767
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 1.91341
MCCD1 mitochondrial coiled-coil domain 1 1.88979
C5ORF56 chromosome 5 open reading frame 56 1.88157
HLA-F-AS1 HLA-F antisense RNA 1 1.85741
EHMT2 euchromatic histone-lysine N-methyltransferase 2 1.8253
CLEC16A C-type lectin domain family 16, member A 1.82094
HLA-DMB major histocompatibility complex, class II, DM beta 1.80534
C2 complement component 2 1.7963
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 1.79316
CD58 CD58 molecule 1.77862
NKX2-3 NK2 homeobox 3 1.77797
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1 1.76279
CTSH cathepsin H 1.73304
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 1.72862
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 1.72225
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 1.71244
IL13 interleukin 13 1.71244
EVI5 ecotropic viral integration site 5 1.70448
TAGAP T-cell activation RhoGTPase activating protein 1.69824
ZGPAT zinc finger, CCCH-type with G patch domain 1.68928
CFB complement factor B 1.67895
TRAF1 TNF receptor-associated factor 1 1.65584
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 1.65584
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 1.63535
AHI1 Abelson helper integration site 1 1.63258
TNPO3 transportin 3 1.61591
LACC1 laccase (multicopper oxidoreductase) domain containing 1 1.61479
BTNL2 butyrophilin-like 2 1.60965
PUS10 pseudouridylate synthase 10 1.59602
TNIP1 TNFAIP3 interacting protein 1 1.59516
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 1.58949
TNFAIP3 tumor necrosis factor, alpha-induced protein 3 1.58272
GSDMB gasdermin B 1.58149
FGFR1OP FGFR1 oncogene partner 1.5635
MST1 macrophage stimulating 1 1.56093
MMEL1 membrane metallo-endopeptidase-like 1 1.55262
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 1.52822
GLIS3 GLIS family zinc finger 3 1.5264
ANKRD55 ankyrin repeat domain 55 1.51142
CD86 CD86 molecule 1.51005
SIRPG signal-regulatory protein gamma 1.5037
IL2RA interleukin 2 receptor, alpha 1.49777
HLA-DMA major histocompatibility complex, class II, DM alpha 1.49616
CCR6 chemokine (C-C motif) receptor 6 1.49511
CD69 CD69 molecule 1.48604
IFIH1 interferon induced with helicase C domain 1 1.48419
PRKD2 protein kinase D2 1.47408
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 1.47083
METTL1 methyltransferase like 1 1.45654
CDSN corneodesmosin 1.45613
PSORS1C1 psoriasis susceptibility 1 candidate 1 1.44489
POU5F1 POU class 5 homeobox 1 1.44469
CTLA4 cytotoxic T-lymphocyte-associated protein 4 1.44286
CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase 1.41863
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 1.41863
SP140 SP140 nuclear body protein 1.41863
PTPN2 protein tyrosine phosphatase, non-receptor type 2 1.40853
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15 1.4071
TCF19 transcription factor 19 1.40555
SLC30A7 solute carrier family 30 (zinc transporter), member 7 1.40061
KIF1B kinesin family member 1B 1.40061
BANK1 B-cell scaffold protein with ankyrin repeats 1 1.39169
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 1.38086
BRD2 bromodomain containing 2 1.38039
NCOA5 nuclear receptor coactivator 5 1.37994
SPRED2 sprouty-related, EVH1 domain containing 2 1.37782
PPT2 palmitoyl-protein thioesterase 2 1.36169
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 1.35917
ZMIZ1 zinc finger, MIZ-type containing 1 1.35865
STAT2 signal transducer and activator of transcription 2, 113kDa 1.35521
LOC100506459 uncharacterized LOC100506459 1.34987
ITLN1 intelectin 1 (galactofuranose binding) 1.34137
JAZF1 JAZF zinc finger 1 1.34034
C1ORF106 chromosome 1 open reading frame 106 1.32793
ATXN2L ataxin 2-like 1.32793
AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 1.32793
HORMAD2 HORMA domain containing 2 1.32793
SBNO2 strawberry notch homolog 2 (Drosophila) 1.32521
DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 1.31934
ICOSLG inducible T-cell co-stimulator ligand 1.31768
AGER advanced glycosylation end product-specific receptor 1.31377
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 1.30781
MALT1 MALT1 paracaspase 1.30781
CD247 CD247 molecule 1.30781
CD6 CD6 molecule 1.29386
IGF2 insulin-like growth factor 2 1.29386
PHRF1 PHD and ring finger domains 1 1.28383
DKKL1 dickkopf-like 1 1.28282
MAPK1 mitogen-activated protein kinase 1 1.28282
ZNF767P zinc finger family member 767, pseudogene 1.28282
SKAP2 src kinase associated phosphoprotein 2 1.27994
ICOS inducible T-cell co-stimulator 1.27533
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 1.27347
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 1.27109
PXK PX domain containing serine/threonine kinase 1.2647
PLEK pleckstrin 1.25984
PVT1 Pvt1 oncogene (non-protein coding) 1.25845
ARHGAP31 Rho GTPase activating protein 31 1.25826
CD40 CD40 molecule, TNF receptor superfamily member 5 1.25717
CLECL1 C-type lectin-like 1 1.24751
CD226 CD226 molecule 1.24751
SPATA2 spermatogenesis associated 2 1.24751
MPV17L2 MPV17 mitochondrial membrane protein-like 2 1.24751
MERTK MER proto-oncogene, tyrosine kinase 1.24751
C6ORF15 chromosome 6 open reading frame 15 1.22362
ADAD1 adenosine deaminase domain containing 1 (testis-specific) 1.2216
SLC15A2 solute carrier family 15 (oligopeptide transporter), member 2 1.21853
UBASH3A ubiquitin associated and SH3 domain containing A 1.21853
BATF basic leucine zipper transcription factor, ATF-like 1.21853
ODF3B outer dense fiber of sperm tails 3B 1.21853
IL7R interleukin 7 receptor 1.21853
CTNNA3 catenin (cadherin-associated protein), alpha 3 1.21046
MLANA melan-A 1.19958
ZFP90 ZFP90 zinc finger protein 1.19958
LOC100506047 uncharacterized LOC100506047 1.19958
SLC44A4 solute carrier family 44, member 4 1.19708
IL17REL interleukin 17 receptor E-like 1.18704
C5ORF30 chromosome 5 open reading frame 30 1.18603
FAM107A family with sequence similarity 107, member A 1.18141
HLA-F major histocompatibility complex, class I, F 1.16436
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 1.15743
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 1.155
ZBTB46 zinc finger and BTB domain containing 46 1.15352
MANBA mannosidase, beta A, lysosomal 1.15352
SOX5 SRY (sex determining region Y)-box 5 1.15352
PRRC2A proline-rich coiled-coil 2A 1.15067
HSPA1L heat shock 70kDa protein 1-like 1.13723
STK19 serine/threonine kinase 19 1.13194
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 1.12851
EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 1.12851
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 1.11976
HCG22 HLA complex group 22 1.11443
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 1.11203
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator 1.11203
SPEF2 sperm flagellar 2 1.09906
LOC100294145 uncharacterized LOC100294145 1.09758
NELFE negative elongation factor complex member E 1.08951
SAE1 SUMO1 activating enzyme subunit 1 1.08774
AK5 adenylate kinase 5 1.07971
SUMF1 sulfatase modifying factor 1 1.07729
MSH5 mutS homolog 5 1.07173
MPHOSPH9 M-phase phosphoprotein 9 1.0674
MYNN myoneurin 1.0674
C1ORF204 chromosome 1 open reading frame 204 1.0674
TMEM39A transmembrane protein 39A 1.0674
CLSTN2 calsyntenin 2 1.05869
SYK spleen tyrosine kinase 1.05066
GRB10 growth factor receptor-bound protein 10 1.04365
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 1.04365
GPC5 glypican 5 1.04365
PVR poliovirus receptor 1.04365
ZNF433 zinc finger protein 433 1.04365
KIF21B kinesin family member 21B 1.04365
VAV2 vav 2 guanine nucleotide exchange factor 1.04365
TRIM31 tripartite motif containing 31 1.02683
KANK1 KN motif and ankyrin repeat domains 1 1.01065
DPCR1 diffuse panbronchiolitis critical region 1 1.00557
LINC01551 long intergenic non-protein coding RNA 1551 1.00059
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 1.00059
PDZRN4 PDZ domain containing ring finger 4 1.00059
CSMD1 CUB and Sushi multiple domains 1 1.00059
LEKR1 leucine, glutamate and lysine rich 1 1.00059
NDFIP1 Nedd4 family interacting protein 1 1.00059
DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11 0.998051
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 0.971092
RPL5 ribosomal protein L5 0.969142
RREB1 ras responsive element binding protein 1 0.969142
RELN reelin 0.969142
FCRL3 Fc receptor-like 3 0.969142
NRXN1 neurexin 1 0.965141
MOG myelin oligodendrocyte glycoprotein 0.95642
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 0.942765
ALPK2 alpha-kinase 2 0.942765
TRIM2 tripartite motif containing 2 0.942765
EGFL6 EGF-like-domain, multiple 6 0.942765
CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 0.942765
PLCL2 phospholipase C-like 2 0.942765
NLRP11 NLR family, pyrin domain containing 11 0.942765
LRRC16A leucine rich repeat containing 16A 0.941615
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.936101
TIAM1 T-cell lymphoma invasion and metastasis 1 0.928083
FAM179A family with sequence similarity 179, member A 0.919947
TLL1 tolloid-like 1 0.919744
PCSK5 proprotein convertase subtilisin/kexin type 5 0.919744
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma 0.899912
MET MET proto-oncogene, receptor tyrosine kinase 0.899912
AXDND1 axonemal dynein light chain domain containing 1 0.899912
OPCML opioid binding protein/cell adhesion molecule-like 0.896546
TG thyroglobulin 0.896372
KPNB1 karyopherin (importin) beta 1 0.884114
IL12A interleukin 12A 0.882984
LOC100506023 uncharacterized LOC100506023 0.882984
NCKAP5 NCK-associated protein 5 0.882984
GPR75-ASB3 GPR75-ASB3 readthrough 0.881236
SAMD12 sterile alpha motif domain containing 12 0.868241
VTI1A vesicle transport through interaction with t-SNAREs 1A 0.868241
POPDC3 popeye domain containing 3 0.868241
POU2F3 POU class 2 homeobox 3 0.867296
FHIT fragile histidine triad 0.865437
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0.85216
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 0.849104
HSDL1 hydroxysteroid dehydrogenase like 1 0.849104
ETV6 ets variant 6 0.845831
CDH18 cadherin 18, type 2 0.840142
PCDH7 protocadherin 7 0.839148
DYSF dysferlin 0.836232
FAM69A family with sequence similarity 69, member A 0.835282
ELMO1 engulfment and cell motility 1 0.834343
ERBB4 erb-b2 receptor tyrosine kinase 4 0.828053
PHACTR2 phosphatase and actin regulator 2 0.82634
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.824663
TRIM10 tripartite motif containing 10 0.823019
HDAC9 histone deacetylase 9 0.82221
SDCBP2 syndecan binding protein (syntenin) 2 0.81905
NXN nucleoredoxin 0.816759
TBC1D4 TBC1 domain family, member 4 0.807106
CLDN14 claudin 14 0.805703
RNF213 ring finger protein 213 0.802966
PARD3B par-3 family cell polarity regulator beta 0.799025
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0.7965
SMAD3 SMAD family member 3 0.793451
EFNA5 ephrin-A5 0.791087
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0.78662
MCTP2 multiple C2 domains, transmembrane 2 0.784773
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 0.784165
GRM7 glutamate receptor, metabotropic 7 0.776638
DGKQ diacylglycerol kinase, theta 110kDa 0.773374
DPPA2 developmental pluripotency associated 2 0.772842
PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha 0.771265
HEMK1 HemK methyltransferase family member 1 0.770746
RBMS3 RNA binding motif, single stranded interacting protein 3 0.769717
CCHCR1 coiled-coil alpha-helical rod protein 1 0.765722
MAML3 mastermind-like 3 (Drosophila) 0.765722
GATC glutamyl-tRNA(Gln) amidotransferase, subunit C 0.762996
CYFIP1 cytoplasmic FMR1 interacting protein 1 0.762996
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.762996
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 0.759303
EVA1A eva-1 homolog A (C. elegans) 0.755257
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 0.753784
CD300A CD300a molecule 0.753299
ZNF423 zinc finger protein 423 0.748122
NSD1 nuclear receptor binding SET domain protein 1 0.744976
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.744535
COL27A1 collagen, type XXVII, alpha 1 0.743226
SLIT3 slit homolog 3 (Drosophila) 0.731918
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 0.731062
DENND1A DENN/MADD domain containing 1A 0.726484
ERG v-ets avian erythroblastosis virus E26 oncogene homolog 0.726078
TGFBR3 transforming growth factor, beta receptor III 0.725675
LRRC4C leucine rich repeat containing 4C 0.724474
PSORS1C2 psoriasis susceptibility 1 candidate 2 0.723288
ANKRD26P3 ankyrin repeat domain 26 pseudogene 3 0.722896
GRIK1 glutamate receptor, ionotropic, kainate 1 0.721344
NRG1 neuregulin 1 0.719817
WBSCR17 Williams-Beuren syndrome chromosome region 17 0.718314
CTNND2 catenin (cadherin-associated protein), delta 2 0.717203
STX8 syntaxin 8 0.716836
E2F5 E2F transcription factor 5, p130-binding 0.71538
MAGEB10 melanoma antigen family B10 0.714303
TNP2 transition protein 2 (during histone to protamine replacement) 0.710801
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.70642
TRAPPC9 trafficking protein particle complex 9 0.704251
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.703894
LOC388210 0.703894
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.702479
CPVL carboxypeptidase, vitellogenic-like 0.701431
MUC22 mucin 22 0.699367
PTCHD1-AS PTCHD1 antisense RNA (head to head) 0.697013
CPE carboxypeptidase E 0.694067
KSR2 kinase suppressor of ras 2 0.682247
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 0.681679
CADM2 cell adhesion molecule 2 0.679668
MUC21 mucin 21, cell surface associated 0.679051
SYN3 synapsin III 0.677522
ZBTB20 zinc finger and BTB domain containing 20 0.67336
KIAA1211 KIAA1211 0.67307
CPNE4 copine IV 0.671627
AACS acetoacetyl-CoA synthetase 0.665514
RIN2 Ras and Rab interactor 2 0.660518
BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 0.659244
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.656743
TRIM26 tripartite motif containing 26 0.656496
ASB3 ankyrin repeat and SOCS box containing 3 0.655272
APOM apolipoprotein M 0.650522
DYX1C1 dyslexia susceptibility 1 candidate 1 0.649599
A2ML1 alpha-2-macroglobulin-like 1 0.645377
PLXNA2 plexin A2 0.640092
CNTN6 contactin 6 0.636862
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.635284
OSBP2 oxysterol binding protein 2 0.631549
NCF4 neutrophil cytosolic factor 4, 40kDa 0.630903
IL6 interleukin 6 0.630903
EPHA6 EPH receptor A6 0.630689
SFSWAP splicing factor, suppressor of white-apricot family 0.630475
LOC158435 uncharacterized LOC158435 0.630049
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.628991
ARHGAP17 Rho GTPase activating protein 17 0.628153
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.626701
ZFP69 ZFP69 zinc finger protein 0.623859
IL7 interleukin 7 0.619356
RAB3B RAB3B, member RAS oncogene family 0.618593
HNRNPLL heterogeneous nuclear ribonucleoprotein L-like 0.613833
RRP1B ribosomal RNA processing 1B 0.611966
ALK anaplastic lymphoma receptor tyrosine kinase 0.609951
ARMC9 armadillo repeat containing 9 0.60465
GFI1 growth factor independent 1 transcription repressor 0.603793
AGBL1 ATP/GTP binding protein-like 1 0.603112
KDM4C lysine (K)-specific demethylase 4C 0.603112
TSPAN16 tetraspanin 16 0.602605
IRAK2 interleukin-1 receptor-associated kinase 2 0.60143
GRIK4 glutamate receptor, ionotropic, kainate 4 0.600105
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough 0.598959
DSCAML1 Down syndrome cell adhesion molecule like 1 0.598797
NOL10 nucleolar protein 10 0.598311
TENM4 teneurin transmembrane protein 4 0.597185
CENPM centromere protein M 0.597026
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 0.596866
CHODL chondrolectin 0.594816
RSPO2 R-spondin 2 0.594193
NPAS3 neuronal PAS domain protein 3 0.593729
C1QB complement component 1, q subcomponent, B chain 0.58687
SUSD3 sushi domain containing 3 0.583301
DOCK2 dedicator of cytokinesis 2 0.582818
SORBS2 sorbin and SH3 domain containing 2 0.581861
CADPS2 Ca++-dependent secretion activator 2 0.580796
FBXO32 F-box protein 32 0.580561
USP8 ubiquitin specific peptidase 8 0.579744
HPGDS hematopoietic prostaglandin D synthase 0.578589
DNM3 dynamin 3 0.57745
LRRK1 leucine-rich repeat kinase 1 0.576437
UNC5B unc-5 homolog B (C. elegans) 0.573794
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.572823
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.560832
ICAM3 intercellular adhesion molecule 3 0.55536
PDZD2 PDZ domain containing 2 0.53868
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 0.537883
TTYH2 tweety family member 2 0.532619
IL12RB2 interleukin 12 receptor, beta 2 0.522995
HAPLN1 hyaluronan and proteoglycan link protein 1 0.522136
COL25A1 collagen, type XXV, alpha 1 0.522136
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.508017
FAM19A1 family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 0.498792
MXD1 MAX dimerization protein 1 0.466305
HDGFRP3 hepatoma-derived growth factor, related protein 3 0.464433
DIAPH1 diaphanous-related formin 1 0.461356
CYB5B cytochrome b5 type B (outer mitochondrial membrane) 0.458078
LOC440600 uncharacterized LOC440600 0.452371
KLRB1 killer cell lectin-like receptor subfamily B, member 1 0.445326
DSCAM Down syndrome cell adhesion molecule 0.436956
STK39 serine threonine kinase 39 0.429005