reproductive system disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A disease of anatomical entity that is located_in reproductive system organs. (Human Disease Ontology, DOID_15)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:15
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Genes

299 genes associated with the disease reproductive system disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
SMOC1 SPARC related modular calcium binding 1 1.62029
LDAH lipid droplet associated hydrolase 1.29875
SOX7 SRY (sex determining region Y)-box 7 1.19999
GLIS1 GLIS family zinc finger 1 1.19762
SORBS2 sorbin and SH3 domain containing 2 1.18698
LIN28B lin-28 homolog B (C. elegans) 1.14463
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 1.09798
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 1.03626
C2ORF91 chromosome 2 open reading frame 91 0.99494
ZNF695 zinc finger protein 695 0.984747
VAV3 vav 3 guanine nucleotide exchange factor 0.964504
MPDU1 mannose-P-dolichol utilization defect 1 0.551956
SENP3 SUMO1/sentrin/SMT3 specific peptidase 3 0.548751
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 0.427599
ZFAT zinc finger and AT hook domain containing 0.427053
GYS1 glycogen synthase 1 (muscle) 0.372286
ARMC9 armadillo repeat containing 9 0.366572
IL1R2 interleukin 1 receptor, type II 0.363687
SYNE3 spectrin repeat containing, nuclear envelope family member 3 0.355096
PTK2 protein tyrosine kinase 2 0.351367
CHSY1 chondroitin sulfate synthase 1 0.345638
GLDN gliomedin 0.340538
CFB complement factor B 0.336544
ADGB androglobin 0.335847
HLA-DRA major histocompatibility complex, class II, DR alpha 0.335654
NR6A1 nuclear receptor subfamily 6, group A, member 1 0.326872
CDKN2B-AS1 CDKN2B antisense RNA 1 0.324105
MAST4 microtubule associated serine/threonine kinase family member 4 0.323218
TDRKH tudor and KH domain containing 0.321339
C6ORF10 chromosome 6 open reading frame 10 0.317191
FAT1 FAT atypical cadherin 1 0.312237
CUBN cubilin (intrinsic factor-cobalamin receptor) 0.308745
ZFPM1 zinc finger protein, FOG family member 1 0.30683
SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 0.299347
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 0.296317
FAM155A family with sequence similarity 155, member A 0.291619
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 0.288284
BTNL2 butyrophilin-like 2 0.283409
MOBP myelin-associated oligodendrocyte basic protein 0.281898
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 0.276494
LOC100289473 cytoskeleton associated protein 2-like pseudogene 0.276394
SOX5 SRY (sex determining region Y)-box 5 0.276394
WNT4 wingless-type MMTV integration site family, member 4 0.272343
ARHGAP24 Rho GTPase activating protein 24 0.269537
GREB1 growth regulation by estrogen in breast cancer 1 0.265503
COL18A1 collagen, type XVIII, alpha 1 0.264557
CSMD1 CUB and Sushi multiple domains 1 0.263342
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.260765
REEP3 receptor accessory protein 3 0.260531
PTPRD protein tyrosine phosphatase, receptor type, D 0.247052
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.246847
UPK1B uroplakin 1B 0.246423
GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 0.236664
FRMD4A FERM domain containing 4A 0.236341
AMPH amphiphysin 0.236095
SLCO5A1 solute carrier organic anion transporter family, member 5A1 0.231377
FGD6 FYVE, RhoGEF and PH domain containing 6 0.230698
ISPD isoprenoid synthase domain containing 0.220383
VEZT vezatin, adherens junctions transmembrane protein 0.218348
PDE3A phosphodiesterase 3A, cGMP-inhibited 0.217894
ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 0.215909
IL33 interleukin 33 0.211407
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 0.211407
MARCO macrophage receptor with collagenous structure 0.210587
NPR3 natriuretic peptide receptor 3 0.210254
PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa 0.210254
ESR2 estrogen receptor 2 (ER beta) 0.209618
ANAPC4 anaphase promoting complex subunit 4 0.206065
ATRNL1 attractin-like 1 0.205847
ASTN2 astrotactin 2 0.205217
CEP112 centrosomal protein 112kDa 0.203879
OR9Q1 olfactory receptor, family 9, subfamily Q, member 1 0.203297
PVALB parvalbumin 0.202746
EPC1 enhancer of polycomb homolog 1 (Drosophila) 0.202746
CALD1 caldesmon 1 0.201245
NOTCH4 notch 4 0.197476
NTM neurotrimin 0.196839
CRACR2A calcium release activated channel regulator 2A 0.194827
FHOD3 formin homology 2 domain containing 3 0.194543
AHCY adenosylhomocysteinase 0.194211
MKKS McKusick-Kaufman syndrome 0.193732
MCPH1 microcephalin 1 0.192152
AOX2P aldehyde oxidase 2 pseudogene 0.19067
DNAH10 dynein, axonemal, heavy chain 10 0.189922
GPA33 glycoprotein A33 (transmembrane) 0.189468
PCSK5 proprotein convertase subtilisin/kexin type 5 0.189362
C9ORF171 chromosome 9 open reading frame 171 0.188778
KSR2 kinase suppressor of ras 2 0.188432
CNTN4 contactin 4 0.18824
PTAR1 protein prenyltransferase alpha subunit repeat containing 1 0.187367
OR56A4 olfactory receptor, family 56, subfamily A, member 4 0.187323
SYNE1 spectrin repeat containing, nuclear envelope 1 0.18678
KDM4C lysine (K)-specific demethylase 4C 0.186262
PHF2P1 PHD finger protein 2 pseudogene 1 0.185921
MACROD2 MACRO domain containing 2 0.18527
ESR1 estrogen receptor 1 0.184632
FLJ40288 uncharacterized FLJ40288 0.184405
CNTN5 contactin 5 0.183857
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.182549
LINGO2 leucine rich repeat and Ig domain containing 2 0.182085
LHFPL3 lipoma HMGIC fusion partner-like 3 0.180482
RPTOR regulatory associated protein of MTOR, complex 1 0.179224
CCDC33 coiled-coil domain containing 33 0.178482
FN1 fibronectin 1 0.178482
AGBL1 ATP/GTP binding protein-like 1 0.177545
TSNARE1 t-SNARE domain containing 1 0.17702
WWC1 WW and C2 domain containing 1 0.176907
PRIM2 primase, DNA, polypeptide 2 (58kDa) 0.176684
EPSTI1 epithelial stromal interaction 1 (breast) 0.176304
GPR75-ASB3 GPR75-ASB3 readthrough 0.175886
SCHIP1 schwannomin interacting protein 1 0.175835
DNMBP dynamin binding protein 0.175633
SHANK1 SH3 and multiple ankyrin repeat domains 1 0.175484
TM7SF3 transmembrane 7 superfamily member 3 0.175143
DISP2 dispatched homolog 2 (Drosophila) 0.174675
KBTBD12 kelch repeat and BTB (POZ) domain containing 12 0.174675
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 0.17463
DSCAML1 Down syndrome cell adhesion molecule like 1 0.174449
CDK19 cyclin-dependent kinase 19 0.173967
TMEM35 transmembrane protein 35 0.173024
LOC647323 uncharacterized LOC647323 0.17234
UROC1 urocanate hydratase 1 0.172157
BCAP29 B-cell receptor-associated protein 29 0.171446
PGR progesterone receptor 0.171446
CNOT2 CCR4-NOT transcription complex, subunit 2 0.171363
DNM3 dynamin 3 0.170249
AVEN apoptosis, caspase activation inhibitor 0.170022
USP8 ubiquitin specific peptidase 8 0.169984
DPF3 D4, zinc and double PHD fingers, family 3 0.168944
ANGPT1 angiopoietin 1 0.168807
ASIC2 acid sensing (proton gated) ion channel 2 0.16857
PCDH7 protocadherin 7 0.16847
SPOCK3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 0.16751
ERLEC1 endoplasmic reticulum lectin 1 0.167387
RYR2 ryanodine receptor 2 (cardiac) 0.167326
NELL1 NEL-like 1 (chicken) 0.167326
PDZRN4 PDZ domain containing ring finger 4 0.167145
SDK2 sidekick cell adhesion molecule 2 0.167115
MCC mutated in colorectal cancers 0.166908
SNTA1 syntrophin, alpha 1 0.166908
MS4A15 membrane-spanning 4-domains, subfamily A, member 15 0.166674
SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1 0.166617
CACNG4 calcium channel, voltage-dependent, gamma subunit 4 0.166081
KTN1 kinectin 1 (kinesin receptor) 0.165863
POU6F2 POU class 6 homeobox 2 0.165436
LOC100288181 uncharacterized LOC100288181 0.164697
LOC339298 uncharacterized LOC339298 0.164598
ASB3 ankyrin repeat and SOCS box containing 3 0.164163
CDCP1 CUB domain containing protein 1 0.164092
PENK proenkephalin 0.163812
FHIT fragile histidine triad 0.163789
FAM169B family with sequence similarity 169, member B 0.163697
LPP LIM domain containing preferred translocation partner in lipoma 0.16338
ALG8 ALG8, alpha-1,3-glucosyltransferase 0.162475
PLXDC2 plexin domain containing 2 0.162289
PRNT prion protein (testis specific) 0.162207
KCNN3 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3 0.162065
RPE65 retinal pigment epithelium-specific protein 65kDa 0.162065
C6ORF106 chromosome 6 open reading frame 106 0.162065
FXYD3 FXYD domain containing ion transport regulator 3 0.161669
CDH12 cadherin 12, type 2 (N-cadherin 2) 0.161669
MRVI1 murine retrovirus integration site 1 homolog 0.161475
ALDH9A1 aldehyde dehydrogenase 9 family, member A1 0.161115
FGG fibrinogen gamma chain 0.161096
DCP2 decapping mRNA 2 0.160947
SEPW1 selenoprotein W, 1 0.160911
PGLYRP3 peptidoglycan recognition protein 3 0.160911
SCARA5 scavenger receptor class A, member 5 0.160819
PKNOX2 PBX/knotted 1 homeobox 2 0.160801
PEBP4 phosphatidylethanolamine-binding protein 4 0.160728
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.160318
STK32C serine/threonine kinase 32C 0.160109
TFAP2D transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 0.160023
SGSM1 small G protein signaling modulator 1 0.159502
COL4A2 collagen, type IV, alpha 2 0.158876
KANK1 KN motif and ankyrin repeat domains 1 0.158689
ZBTB7C zinc finger and BTB domain containing 7C 0.158597
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 0.158566
NPHP4 nephronophthisis 4 0.158566
GADL1 glutamate decarboxylase-like 1 0.158414
ARHGAP42 Rho GTPase activating protein 42 0.158264
MTMR3 myotubularin related protein 3 0.157969
PPM1L protein phosphatase, Mg2+/Mn2+ dependent, 1L 0.157753
NEK11 NIMA-related kinase 11 0.157695
PDZD2 PDZ domain containing 2 0.157192
SLC35F4 solute carrier family 35, member F4 0.156908
TMPRSS4 transmembrane protease, serine 4 0.156801
TEX36 testis expressed 36 0.156603
PUM2 pumilio RNA-binding family member 2 0.156525
PERP PERP, TP53 apoptosis effector 0.155348
IL17RC interleukin 17 receptor C 0.15523
PXMP4 peroxisomal membrane protein 4, 24kDa 0.15523
ONECUT3 one cut homeobox 3 0.15411
NRP1 neuropilin 1 0.152132
KIAA1217 KIAA1217 0.151683
NFASC neurofascin 0.15125
RIIAD1 regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 0.15125
IFNLR1 interferon, lambda receptor 1 0.150426
ZNF831 zinc finger protein 831 0.149881
WNT3A wingless-type MMTV integration site family, member 3A 0.149654
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 0.149505
FNDC3B fibronectin type III domain containing 3B 0.148042
EPHA4 EPH receptor A4 0.147528
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.147465
VCL vinculin 0.145934
RMDN2 regulator of microtubule dynamics 2 0.145288
APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 0.14428
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.143172
NPAP1 nuclear pore associated protein 1 0.143172
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 0.142997
CADM2 cell adhesion molecule 2 0.142824
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1 0.142824
SACS sacsin molecular chaperone 0.141915
HEG1 heart development protein with EGF-like domains 1 0.141446
NUP98 nucleoporin 98kDa 0.141294
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.141256
MAPK14 mitogen-activated protein kinase 14 0.139569
WDR26 WD repeat domain 26 0.139503
DOCK1 dedicator of cytokinesis 1 0.139245
LRP1B low density lipoprotein receptor-related protein 1B 0.138899
NIN ninein (GSK3B interacting protein) 0.138623
AQP9 aquaporin 9 0.138502
ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17 0.138442
BAHCC1 BAH domain and coiled-coil containing 1 0.138412
HUNK hormonally up-regulated Neu-associated kinase 0.138204
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.136726
SNX27 sorting nexin family member 27 0.136447
PRKG1 protein kinase, cGMP-dependent, type I 0.136343
SPAG17 sperm associated antigen 17 0.13607
PVT1 Pvt1 oncogene (non-protein coding) 0.135936
PTCRA pre T-cell antigen receptor alpha 0.135835
CDC42SE1 CDC42 small effector 1 0.135769
PDGFD platelet derived growth factor D 0.135604
PSAT1 phosphoserine aminotransferase 1 0.135441
CACHD1 cache domain containing 1 0.134835
CSMD2 CUB and Sushi multiple domains 2 0.134835
GRID2 glutamate receptor, ionotropic, delta 2 0.134373
PARD3B par-3 family cell polarity regulator beta 0.134313
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 0.134252
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 0.134073
MR1 major histocompatibility complex, class I-related 0.134013
SASH1 SAM and SH3 domain containing 1 0.133403
IGF2R insulin-like growth factor 2 receptor 0.133261
NCKAP5 NCK-associated protein 5 0.133036
FRYL FRY-like 0.132815
NELL2 NEL-like 2 (chicken) 0.132706
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 0.132516
SLC44A3 solute carrier family 44, member 3 0.132382
PAX8 paired box 8 0.132302
CACNG3 calcium channel, voltage-dependent, gamma subunit 3 0.132143
HELQ helicase, POLQ-like 0.131831
FBLIM1 filamin binding LIM protein 1 0.131702
BTBD9 BTB (POZ) domain containing 9 0.131651
KIAA0226L KIAA0226-like 0.131626
ATP8B4 ATPase, class I, type 8B, member 4 0.13155
SERPINB9 serpin peptidase inhibitor, clade B (ovalbumin), member 9 0.131349
LOXHD1 lipoxygenase homology domains 1 0.131274
TUBA8 tubulin, alpha 8 0.130833
DOCK2 dedicator of cytokinesis 2 0.130664
NLGN1 neuroligin 1 0.130593
MAP3K6 mitogen-activated protein kinase kinase kinase 6 0.130498
ZDHHC14 zinc finger, DHHC-type containing 14 0.130263
CYYR1 cysteine/tyrosine-rich 1 0.129986
SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 0.129986
DROSHA drosha, ribonuclease type III 0.129205
OR51B5 olfactory receptor, family 51, subfamily B, member 5 0.128968
TPRG1 tumor protein p63 regulated 1 0.128734
ESPNL espin-like 0.128671
INTS9 integrator complex subunit 9 0.128256
SLC35F3 solute carrier family 35, member F3 0.128073
CAMK2A calcium/calmodulin-dependent protein kinase II alpha 0.127992
WWOX WW domain containing oxidoreductase 0.127634
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 0.127537
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 0.127517
PANX1 pannexin 1 0.127285
MYOM2 myomesin 2 0.126981
BDNF-AS BDNF antisense RNA 0.126775
RNF165 ring finger protein 165 0.126719
DNHD1 dynein heavy chain domain 1 0.126682
PTPRT protein tyrosine phosphatase, receptor type, T 0.126084
KCNMB4 potassium channel subfamily M regulatory beta subunit 4 0.126084
ZNF423 zinc finger protein 423 0.125996
ALDH1B1 aldehyde dehydrogenase 1 family, member B1 0.12589
TLR10 toll-like receptor 10 0.12582
MGC27382 uncharacterized MGC27382 0.12582
MST1 macrophage stimulating 1 0.125509
ASCC2 activating signal cointegrator 1 complex subunit 2 0.125475
THSD4 thrombospondin, type I, domain containing 4 0.125458
PKD1L1 polycystic kidney disease 1 like 1 0.125339
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b 0.125305
GPR158 G protein-coupled receptor 158 0.124955
DISC1 disrupted in schizophrenia 1 0.124955
UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 0.124905
C5ORF22 chromosome 5 open reading frame 22 0.12484
MYO5C myosin VC 0.12484
KCNG2 potassium channel, voltage gated modifier subfamily G, member 2 0.124807
SCFD2 sec1 family domain containing 2 0.124758
TBX15 T-box 15 0.124742
TMEM164 transmembrane protein 164 0.124644