abnormality of the urethra Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. (Human Phenotype Ontology, HP_0000795)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000795
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Genes

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

Symbol Name Standardized Value
HLA-DRA major histocompatibility complex, class II, DR alpha 3.08361
IL23R interleukin 23 receptor 2.25025
STAT4 signal transducer and activator of transcription 4 2.01121
C6ORF10 chromosome 6 open reading frame 10 1.97993
LPP LIM domain containing preferred translocation partner in lipoma 1.97698
ATG16L1 autophagy related 16-like 1 (S. cerevisiae) 1.80285
NOTCH4 notch 4 1.79297
TNXB tenascin XB 1.67583
KIAA1109 KIAA1109 1.6518
OTUD3 OTU deubiquitinase 3 1.47083
DGKK diacylglycerol kinase, kappa 1.45387
ATXN2 ataxin 2 1.4414
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 1.43008
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 1.42949
ERBB3 erb-b2 receptor tyrosine kinase 3 1.42949
BAG6 BCL2-associated athanogene 6 1.39888
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 1.37008
MCCD1 mitochondrial coiled-coil domain 1 1.34526
C5ORF56 chromosome 5 open reading frame 56 1.33976
HLA-F-AS1 HLA-F antisense RNA 1 1.30523
EHMT2 euchromatic histone-lysine N-methyltransferase 2 1.2532
CLEC16A C-type lectin domain family 16, member A 1.25001
HLA-DMB major histocompatibility complex, class II, DM beta 1.23973
C2 complement component 2 1.23475
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 1.2331
CD58 CD58 molecule 1.22503
NKX2-3 NK2 homeobox 3 1.22464
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1 1.21214
CTSH cathepsin H 1.17513
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 1.17291
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 1.17014
IL13 interleukin 13 1.16627
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 1.16627
EVI5 ecotropic viral integration site 5 1.16297
TAGAP T-cell activation RhoGTPase activating protein 1.16011
ZGPAT zinc finger, CCCH-type with G patch domain 1.15548
CFB complement factor B 1.14853
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 1.12851
TRAF1 TNF receptor-associated factor 1 1.12851
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 1.11203
AHI1 Abelson helper integration site 1 1.1097
TNPO3 transportin 3 1.09351
LACC1 laccase (multicopper oxidoreductase) domain containing 1 1.09255
BTNL2 butyrophilin-like 2 1.08821
PUS10 pseudouridylate synthase 10 1.07644
TNIP1 TNFAIP3 interacting protein 1 1.07572
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 1.07068
TNFAIP3 tumor necrosis factor, alpha-induced protein 3 1.06487
GSDMB gasdermin B 1.06368
FGFR1OP FGFR1 oncogene partner 1.0424
MST1 macrophage stimulating 1 1.03921
MMEL1 membrane metallo-endopeptidase-like 1 1.02893
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 0.99234
GLIS3 GLIS family zinc finger 3 0.989521
ANKRD55 ankyrin repeat domain 55 0.966492
CD86 CD86 molecule 0.964823
SIRPG signal-regulatory protein gamma 0.956307
IL2RA interleukin 2 receptor, alpha 0.948998
HLA-DMA major histocompatibility complex, class II, DM alpha 0.94703
CCR6 chemokine (C-C motif) receptor 6 0.945766
CD69 CD69 molecule 0.93393
IFIH1 interferon induced with helicase C domain 1 0.931243
PRKD2 protein kinase D2 0.91579
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 0.909907
METTL1 methyltransferase like 1 0.881851
CDSN corneodesmosin 0.881073
PSORS1C1 psoriasis susceptibility 1 candidate 1 0.860126
POU5F1 POU class 5 homeobox 1 0.859761
CTLA4 cytotoxic T-lymphocyte-associated protein 4 0.856119
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 0.808951
CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase 0.808951
SP140 SP140 nuclear body protein 0.808951
PTPN2 protein tyrosine phosphatase, non-receptor type 2 0.797284
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15 0.79573
TCF19 transcription factor 19 0.794044
KIF1B kinesin family member 1B 0.788376
SLC30A7 solute carrier family 30 (zinc transporter), member 7 0.788376
BANK1 B-cell scaffold protein with ankyrin repeats 1 0.776997
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 0.761975
BRD2 bromodomain containing 2 0.761257
NCOA5 nuclear receptor coactivator 5 0.760549
SPRED2 sprouty-related, EVH1 domain containing 2 0.757148
PPT2 palmitoyl-protein thioesterase 2 0.730578
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.726349
ZMIZ1 zinc finger, MIZ-type containing 1 0.725475
STAT2 signal transducer and activator of transcription 2, 113kDa 0.719731
LOC100506459 uncharacterized LOC100506459 0.710943
ITLN1 intelectin 1 (galactofuranose binding) 0.696318
JAZF1 JAZF zinc finger 1 0.694617
AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 0.676552
C1ORF106 chromosome 1 open reading frame 106 0.676552
ATXN2L ataxin 2-like 0.676552
HORMAD2 HORMA domain containing 2 0.676552
SBNO2 strawberry notch homolog 2 (Drosophila) 0.672654
DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 0.665016
ICOSLG inducible T-cell co-stimulator ligand 0.662858
AGER advanced glycosylation end product-specific receptor 0.657798
CD247 CD247 molecule 0.650124
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 0.650124
MALT1 MALT1 paracaspase 0.650124
IGF2 insulin-like growth factor 2 0.630378
CD6 CD6 molecule 0.630378
PHRF1 PHD and ring finger domains 1 0.616892
DKKL1 dickkopf-like 1 0.615522
MAPK1 mitogen-activated protein kinase 1 0.615522
ZNF767P zinc finger family member 767, pseudogene 0.615522
SKAP2 src kinase associated phosphoprotein 2 0.611595
ICOS inducible T-cell co-stimulator 0.605702
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 0.60335
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.600358
PXK PX domain containing serine/threonine kinase 0.592408
PLEK pleckstrin 0.586494
PVT1 Pvt1 oncogene (non-protein coding) 0.584959
ARHGAP31 Rho GTPase activating protein 31 0.584753
CD40 CD40 molecule, TNF receptor superfamily member 5 0.5836
MERTK MER proto-oncogene, tyrosine kinase 0.572823
MPV17L2 MPV17 mitochondrial membrane protein-like 2 0.572823
CD226 CD226 molecule 0.572823
CLECL1 C-type lectin-like 1 0.572823
SPATA2 spermatogenesis associated 2 0.572823
C6ORF15 chromosome 6 open reading frame 15 0.546973
ADAD1 adenosine deaminase domain containing 1 (testis-specific) 0.545307
ODF3B outer dense fiber of sperm tails 3B 0.542759
BATF basic leucine zipper transcription factor, ATF-like 0.542759
UBASH3A ubiquitin associated and SH3 domain containing A 0.542759
IL7R interleukin 7 receptor 0.542759
SLC15A2 solute carrier family 15 (oligopeptide transporter), member 2 0.542759
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.537382
LOC100506047 uncharacterized LOC100506047 0.530444
ZFP90 ZFP90 zinc finger protein 0.530444
MLANA melan-A 0.530444
SLC44A4 solute carrier family 44, member 4 0.528809
IL17REL interleukin 17 receptor E-like 0.522136
C5ORF30 chromosome 5 open reading frame 30 0.521436
FAM107A family with sequence similarity 107, member A 0.518187
HLA-F major histocompatibility complex, class I, F 0.504289
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 0.498792
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.496801
ZBTB46 zinc finger and BTB domain containing 46 0.495598
MANBA mannosidase, beta A, lysosomal 0.495598
SOX5 SRY (sex determining region Y)-box 5 0.495598
PRRC2A proline-rich coiled-coil 2A 0.493279
HSPA1L heat shock 70kDa protein 1-like 0.481531
STK19 serine/threonine kinase 19 0.476834
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 0.474018
EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 0.474018
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 0.466715
HCG22 HLA complex group 22 0.462367
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.4604
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator 0.4604
SPEF2 sperm flagellar 2 0.450694
LOC100294145 uncharacterized LOC100294145 0.449695
NELFE negative elongation factor complex member E 0.444222
SAE1 SUMO1 activating enzyme subunit 1 0.443208
AK5 adenylate kinase 5 0.438718
SUMF1 sulfatase modifying factor 1 0.437499
MSH5 mutS homolog 5 0.435
C1ORF204 chromosome 1 open reading frame 204 0.433116
MPHOSPH9 M-phase phosphoprotein 9 0.433116
TMEM39A transmembrane protein 39A 0.433116
MYNN myoneurin 0.433116
CLSTN2 calsyntenin 2 0.429354
SYK spleen tyrosine kinase 0.426113
ZNF433 zinc finger protein 433 0.424122
PVR poliovirus receptor 0.424122
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 0.424122
GRB10 growth factor receptor-bound protein 10 0.424122
VAV2 vav 2 guanine nucleotide exchange factor 0.424122
KIF21B kinesin family member 21B 0.424122
GPC5 glypican 5 0.424122
TRIM31 tripartite motif containing 31 0.419059
KANK1 KN motif and ankyrin repeat domains 1 0.415477
DPCR1 diffuse panbronchiolitis critical region 1 0.414637
CSMD1 CUB and Sushi multiple domains 1 0.413807
NDFIP1 Nedd4 family interacting protein 1 0.413807
LEKR1 leucine, glutamate and lysine rich 1 0.413807
LINC01551 long intergenic non-protein coding RNA 1551 0.413807
PDZRN4 PDZ domain containing ring finger 4 0.413807
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 0.413807
DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11 0.413441
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 0.410507
RELN reelin 0.410331
RPL5 ribosomal protein L5 0.410331
FCRL3 Fc receptor-like 3 0.410331
RREB1 ras responsive element binding protein 1 0.410331
NRXN1 neurexin 1 0.409968
MOG myelin oligodendrocyte glycoprotein 0.409271
EGFL6 EGF-like-domain, multiple 6 0.408206
ALPK2 alpha-kinase 2 0.408206
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 0.408206
NLRP11 NLR family, pyrin domain containing 11 0.408206
TRIM2 tripartite motif containing 2 0.408206
CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 0.408206
PLCL2 phospholipase C-like 2 0.408206
LRRC16A leucine rich repeat containing 16A 0.408116
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.407732
TIAM1 T-cell lymphoma invasion and metastasis 1 0.407176
FAM179A family with sequence similarity 179, member A 0.406603
PCSK5 proprotein convertase subtilisin/kexin type 5 0.406588
TLL1 tolloid-like 1 0.406588
AXDND1 axonemal dynein light chain domain containing 1 0.405267
MET MET proto-oncogene, receptor tyrosine kinase 0.405267
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma 0.405267
OPCML opioid binding protein/cell adhesion molecule-like 0.405029
TG thyroglobulin 0.405016
KPNB1 karyopherin (importin) beta 1 0.404166
NCKAP5 NCK-associated protein 5 0.40409
IL12A interleukin 12A 0.40409
LOC100506023 uncharacterized LOC100506023 0.40409
GPR75-ASB3 GPR75-ASB3 readthrough 0.403971
VTI1A vesicle transport through interaction with t-SNAREs 1A 0.403073
POPDC3 popeye domain containing 3 0.403073
SAMD12 sterile alpha motif domain containing 12 0.403073
POU2F3 POU class 2 homeobox 3 0.403006
FHIT fragile histidine triad 0.402875
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0.401945
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 0.401727
HSDL1 hydroxysteroid dehydrogenase like 1 0.401727
ETV6 ets variant 6 0.401477
CDH18 cadherin 18, type 2 0.401039
PCDH7 protocadherin 7 0.400962
DYSF dysferlin 0.400734
FAM69A family with sequence similarity 69, member A 0.40066
ELMO1 engulfment and cell motility 1 0.400586
ERBB4 erb-b2 receptor tyrosine kinase 4 0.400089
PHACTR2 phosphatase and actin regulator 2 0.399953
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.399819
TRIM10 tripartite motif containing 10 0.399687
HDAC9 histone deacetylase 9 0.399622
SDCBP2 syndecan binding protein (syntenin) 2 0.399366
NXN nucleoredoxin 0.39918
TBC1D4 TBC1 domain family, member 4 0.398421
CLDN14 claudin 14 0.39831
RNF213 ring finger protein 213 0.398093
PARD3B par-3 family cell polarity regulator beta 0.397761
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0.397531
SMAD3 SMAD family member 3 0.397252
EFNA5 ephrin-A5 0.397035
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0.396667
MCTP2 multiple C2 domains, transmembrane 2 0.396514
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 0.396463
GRM7 glutamate receptor, metabotropic 7 0.395833
DGKQ diacylglycerol kinase, theta 110kDa 0.395556
DPPA2 developmental pluripotency associated 2 0.395511
PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha 0.395376
HEMK1 HemK methyltransferase family member 1 0.395332
RBMS3 RNA binding motif, single stranded interacting protein 3 0.395244
MAML3 mastermind-like 3 (Drosophila) 0.3949
CCHCR1 coiled-coil alpha-helical rod protein 1 0.3949
CYFIP1 cytoplasmic FMR1 interacting protein 1 0.394692
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.394692
GATC glutamyl-tRNA(Gln) amidotransferase, subunit C 0.394692
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 0.394408
EVA1A eva-1 homolog A (C. elegans) 0.394095
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 0.39398
CD300A CD300a molecule 0.393942
ZNF423 zinc finger protein 423 0.393515
NSD1 nuclear receptor binding SET domain protein 1 0.393215
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.393173
COL27A1 collagen, type XXVII, alpha 1 0.393048
SLIT3 slit homolog 3 (Drosophila) 0.392019
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 0.391943
DENND1A DENN/MADD domain containing 1A 0.391539
ERG v-ets avian erythroblastosis virus E26 oncogene homolog 0.391503
TGFBR3 transforming growth factor, beta receptor III 0.391468
LRRC4C leucine rich repeat containing 4C 0.391361
PSORS1C2 psoriasis susceptibility 1 candidate 2 0.391255
ANKRD26P3 ankyrin repeat domain 26 pseudogene 3 0.39122
GRIK1 glutamate receptor, ionotropic, kainate 1 0.391081
NRG1 neuregulin 1 0.390944
WBSCR17 Williams-Beuren syndrome chromosome region 17 0.390809
CTNND2 catenin (cadherin-associated protein), delta 2 0.390708
STX8 syntaxin 8 0.390675
E2F5 E2F transcription factor 5, p130-binding 0.390543
MAGEB10 melanoma antigen family B10 0.390445
TNP2 transition protein 2 (during histone to protamine replacement) 0.390125
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.389754
TRAPPC9 trafficking protein particle complex 9 0.389573
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.389544
LOC388210 0.389544
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.389425
CPVL carboxypeptidase, vitellogenic-like 0.389337
MUC22 mucin 22 0.389163
PTCHD1-AS PTCHD1 antisense RNA (head to head) 0.388964
CPE carboxypeptidase E 0.388713
KSR2 kinase suppressor of ras 2 0.387537
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 0.387478
CADM2 cell adhesion molecule 2 0.387274
MUC21 mucin 21, cell surface associated 0.387217
SYN3 synapsin III 0.387074
ZBTB20 zinc finger and BTB domain containing 20 0.386682
KIAA1211 KIAA1211 0.386655
CPNE4 copine IV 0.386518
AACS acetoacetyl-CoA synthetase 0.385935
RIN2 Ras and Rab interactor 2 0.385453
BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 0.385329
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.385085
TRIM26 tripartite motif containing 26 0.385061
ASB3 ankyrin repeat and SOCS box containing 3 0.384941
APOM apolipoprotein M 0.384472
DYX1C1 dyslexia susceptibility 1 candidate 1 0.384381
A2ML1 alpha-2-macroglobulin-like 1 0.383999
PLXNA2 plexin A2 0.383523
CNTN6 contactin 6 0.383229
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.383084
OSBP2 oxysterol binding protein 2 0.382741
IL6 interleukin 6 0.382681
NCF4 neutrophil cytosolic factor 4, 40kDa 0.382681
EPHA6 EPH receptor A6 0.382662
SFSWAP splicing factor, suppressor of white-apricot family 0.382642
LOC158435 uncharacterized LOC158435 0.382602
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.382498
ARHGAP17 Rho GTPase activating protein 17 0.382415
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.382269
ZFP69 ZFP69 zinc finger protein 0.381983
IL7 interleukin 7 0.381527
RAB3B RAB3B, member RAS oncogene family 0.381449
HNRNPLL heterogeneous nuclear ribonucleoprotein L-like 0.380974
RRP1B ribosomal RNA processing 1B 0.380788
ALK anaplastic lymphoma receptor tyrosine kinase 0.380587
ARMC9 armadillo repeat containing 9 0.380054
GFI1 growth factor independent 1 transcription repressor 0.379968
KDM4C lysine (K)-specific demethylase 4C 0.379899
AGBL1 ATP/GTP binding protein-like 1 0.379899
TSPAN16 tetraspanin 16 0.379847
IRAK2 interleukin-1 receptor-associated kinase 2 0.379728
GRIK4 glutamate receptor, ionotropic, kainate 4 0.379593
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough 0.379476
DSCAML1 Down syndrome cell adhesion molecule like 1 0.379459
NOL10 nucleolar protein 10 0.379409
TENM4 teneurin transmembrane protein 4 0.379294
CENPM centromere protein M 0.379278
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 0.379261
CHODL chondrolectin 0.37905
RSPO2 R-spondin 2 0.378986
NPAS3 neuronal PAS domain protein 3 0.378938
C1QB complement component 1, q subcomponent, B chain 0.378224
SUSD3 sushi domain containing 3 0.377808
DOCK2 dedicator of cytokinesis 2 0.377749
SORBS2 sorbin and SH3 domain containing 2 0.377633
CADPS2 Ca++-dependent secretion activator 2 0.377504
FBXO32 F-box protein 32 0.377476
USP8 ubiquitin specific peptidase 8 0.377376
HPGDS hematopoietic prostaglandin D synthase 0.377236
DNM3 dynamin 3 0.377096
LRRK1 leucine-rich repeat kinase 1 0.376973
UNC5B unc-5 homolog B (C. elegans) 0.376648
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.376528
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.37505
ICAM3 intercellular adhesion molecule 3 0.374155
PDZD2 PDZ domain containing 2 0.371187
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 0.371018
TTYH2 tweety family member 2 0.369891
IL12RB2 interleukin 12 receptor, beta 2 0.367763
HAPLN1 hyaluronan and proteoglycan link protein 1 0.367568
COL25A1 collagen, type XXV, alpha 1 0.367568
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.364408
FAM19A1 family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 0.362254
MXD1 MAX dimerization protein 1 0.355013
HDGFRP3 hepatoma-derived growth factor, related protein 3 0.354604
DIAPH1 diaphanous-related formin 1 0.35393
CYB5B cytochrome b5 type B (outer mitochondrial membrane) 0.353208
LOC440600 uncharacterized LOC440600 0.35196
KLRB1 killer cell lectin-like receptor subfamily B, member 1 0.350407
DSCAM Down syndrome cell adhesion molecule 0.348284
STK39 serine threonine kinase 39 0.346043