abnormality of the choroid Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000610
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Genes

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

Symbol Name Standardized Value
HLA-DRA major histocompatibility complex, class II, DR alpha 2.84415
IL23R interleukin 23 receptor 2.01904
STAT4 signal transducer and activator of transcription 4 1.66723
C6ORF10 chromosome 6 open reading frame 10 1.64409
LPP LIM domain containing preferred translocation partner in lipoma 1.64296
ATXN2 ataxin 2 1.50607
ATG16L1 autophagy related 16-like 1 (S. cerevisiae) 1.47218
NOTCH4 notch 4 1.46704
TNXB tenascin XB 1.37286
KIAA1109 KIAA1109 1.34591
RASIP1 Ras interacting protein 1 1.27481
OTUD3 OTU deubiquitinase 3 1.15482
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 1.11687
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 1.11616
ERBB3 erb-b2 receptor tyrosine kinase 3 1.11616
BAG6 BCL2-associated athanogene 6 1.09214
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 1.06235
MCCD1 mitochondrial coiled-coil domain 1 1.03202
C5ORF56 chromosome 5 open reading frame 56 1.02621
HLA-F-AS1 HLA-F antisense RNA 1 0.995083
EHMT2 euchromatic histone-lysine N-methyltransferase 2 0.935721
CLEC16A C-type lectin domain family 16, member A 0.931027
HLA-DMB major histocompatibility complex, class II, DM beta 0.915075
C2 complement component 2 0.905744
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 0.902701
CD58 CD58 molecule 0.888027
NKX2-3 NK2 homeobox 3 0.887278
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1 0.867129
LINC00461 long intergenic non-protein coding RNA 461 0.85691
CTSH cathepsin H 0.806947
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 0.802718
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 0.79737
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.789789
IL13 interleukin 13 0.789789
EVI5 ecotropic viral integration site 5 0.783136
TAGAP T-cell activation RhoGTPase activating protein 0.777589
ZGPAT zinc finger, CCCH-type with G patch domain 0.768696
CFB complement factor B 0.754402
TRAF1 TNF receptor-associated factor 1 0.71046
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 0.71046
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 0.676274
AHI1 Abelson helper integration site 1 0.671582
TNPO3 transportin 3 0.64108
LACC1 laccase (multicopper oxidoreductase) domain containing 1 0.639275
BTNL2 butyrophilin-like 2 0.631639
PUS10 pseudouridylate synthase 10 0.613353
TNIP1 TNFAIP3 interacting protein 1 0.612278
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.60546
TNFAIP3 tumor necrosis factor, alpha-induced protein 3 0.597623
GSDMB gasdermin B 0.596022
FGFR1OP FGFR1 oncogene partner 0.571422
MST1 macrophage stimulating 1 0.567853
MMEL1 membrane metallo-endopeptidase-like 1 0.557362
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 0.531208
GLIS3 GLIS family zinc finger 3 0.529682
ANKRD55 ankyrin repeat domain 55 0.518699
CD86 CD86 molecule 0.517934
SIRPG signal-regulatory protein gamma 0.514524
IL2RA interleukin 2 receptor, alpha 0.511519
HLA-DMA major histocompatibility complex, class II, DM alpha 0.510704
CCR6 chemokine (C-C motif) receptor 6 0.510181
CD69 CD69 molecule 0.505626
IFIH1 interferon induced with helicase C domain 1 0.504644
PRKD2 protein kinase D2 0.498792
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 0.49666
METTL1 methyltransferase like 1 0.486444
CDSN corneodesmosin 0.486143
PSORS1C1 psoriasis susceptibility 1 candidate 1 0.477943
POU5F1 POU class 5 homeobox 1 0.4778
CTLA4 cytotoxic T-lymphocyte-associated protein 4 0.476375
CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase 0.456014
SRSF2 serine/arginine-rich splicing factor 2 0.456014
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 0.456014
SP140 SP140 nuclear body protein 0.456014
PTPN2 protein tyrosine phosphatase, non-receptor type 2 0.450782
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15 0.450077
TCF19 transcription factor 19 0.449311
SLC30A7 solute carrier family 30 (zinc transporter), member 7 0.446865
KIF1B kinesin family member 1B 0.446865
BANK1 B-cell scaffold protein with ankyrin repeats 1 0.442201
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 0.436571
BRD2 bromodomain containing 2 0.436338
NCOA5 nuclear receptor coactivator 5 0.436109
SPRED2 sprouty-related, EVH1 domain containing 2 0.435004
PPT2 palmitoyl-protein thioesterase 2 0.426454
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.425505
ZMIZ1 zinc finger, MIZ-type containing 1 0.425323
STAT2 signal transducer and activator of transcription 2, 113kDa 0.424122
LOC100506459 uncharacterized LOC100506459 0.42226
ITLN1 intelectin 1 (galactofuranose binding) 0.41939
JAZF1 JAZF zinc finger 1 0.419054
ATXN2L ataxin 2-like 0.416272
C1ORF106 chromosome 1 open reading frame 106 0.416272
AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 0.416272
HORMAD2 HORMA domain containing 2 0.416272
SBNO2 strawberry notch homolog 2 (Drosophila) 0.415856
DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 0.415033
ICOSLG inducible T-cell co-stimulator ligand 0.414798
AGER advanced glycosylation end product-specific receptor 0.414242
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 0.413389
CD247 CD247 molecule 0.413389
MALT1 MALT1 paracaspase 0.413389
IGF2 insulin-like growth factor 2 0.411631
CD6 CD6 molecule 0.411631
PHRF1 PHD and ring finger domains 1 0.410622
ZNF767P zinc finger family member 767, pseudogene 0.410522
MAPK1 mitogen-activated protein kinase 1 0.410522
DKKL1 dickkopf-like 1 0.410522
SKAP2 src kinase associated phosphoprotein 2 0.410233
ICOS inducible T-cell co-stimulator 0.409794
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 0.409618
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.409392
PXK PX domain containing serine/threonine kinase 0.408785
PLEK pleckstrin 0.408335
PVT1 Pvt1 oncogene (non-protein coding) 0.408206
ARHGAP31 Rho GTPase activating protein 31 0.408188
CD40 CD40 molecule, TNF receptor superfamily member 5 0.408087
CLECL1 C-type lectin-like 1 0.407127
MERTK MER proto-oncogene, tyrosine kinase 0.407127
MPV17L2 MPV17 mitochondrial membrane protein-like 2 0.407127
CD226 CD226 molecule 0.407127
SPATA2 spermatogenesis associated 2 0.407127
C6ORF15 chromosome 6 open reading frame 15 0.404263
ADAD1 adenosine deaminase domain containing 1 (testis-specific) 0.404041
BATF basic leucine zipper transcription factor, ATF-like 0.403699
ODF3B outer dense fiber of sperm tails 3B 0.403699
SLC15A2 solute carrier family 15 (oligopeptide transporter), member 2 0.403699
IL7R interleukin 7 receptor 0.403699
UBASH3A ubiquitin associated and SH3 domain containing A 0.403699
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.402816
LOC100506047 uncharacterized LOC100506047 0.401639
ZFP90 ZFP90 zinc finger protein 0.401639
MLANA melan-A 0.401639
SLC44A4 solute carrier family 44, member 4 0.401342
IL17REL interleukin 17 receptor E-like 0.400092
C5ORF30 chromosome 5 open reading frame 30 0.39996
FAM107A family with sequence similarity 107, member A 0.399342
HLA-F major histocompatibility complex, class I, F 0.396605
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 0.395473
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1 0.395079
MANBA mannosidase, beta A, lysosomal 0.394839
SOX5 SRY (sex determining region Y)-box 5 0.394839
ZBTB46 zinc finger and BTB domain containing 46 0.394839
PRRC2A proline-rich coiled-coil 2A 0.394377
HSPA1L heat shock 70kDa protein 1-like 0.391785
STK19 serine/threonine kinase 19 0.390731
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 0.390094
EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 0.390094
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 0.388527
HCG22 HLA complex group 22 0.387448
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator 0.386957
HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.386957
SPEF2 sperm flagellar 2 0.384544
LOC100294145 uncharacterized LOC100294145 0.384297
NELFE negative elongation factor complex member E 0.382936
SAE1 SUMO1 activating enzyme subunit 1 0.382682
AK5 adenylate kinase 5 0.38144
SUMF1 sulfatase modifying factor 1 0.38106
MSH5 mutS homolog 5 0.380279
MPHOSPH9 M-phase phosphoprotein 9 0.379688
TMEM39A transmembrane protein 39A 0.379688
C1ORF204 chromosome 1 open reading frame 204 0.379688
MYNN myoneurin 0.379688
CLSTN2 calsyntenin 2 0.378502
SYK spleen tyrosine kinase 0.377459
FLT1 fms-related tyrosine kinase 1 0.376752
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 0.376528
VAV2 vav 2 guanine nucleotide exchange factor 0.376528
PVR poliovirus receptor 0.376528
KIF21B kinesin family member 21B 0.376528
ZNF433 zinc finger protein 433 0.376528
GRB10 growth factor receptor-bound protein 10 0.376528
GPC5 glypican 5 0.376528
TRIM31 tripartite motif containing 31 0.374185
KANK1 KN motif and ankyrin repeat domains 1 0.371889
DPCR1 diffuse panbronchiolitis critical region 1 0.371213
CSMD1 CUB and Sushi multiple domains 1 0.370544
PDZRN4 PDZ domain containing ring finger 4 0.370544
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 0.370544
LEKR1 leucine, glutamate and lysine rich 1 0.370544
NDFIP1 Nedd4 family interacting protein 1 0.370544
LINC01551 long intergenic non-protein coding RNA 1551 0.370544
DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11 0.37025
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 0.367266
RREB1 ras responsive element binding protein 1 0.367064
RPL5 ribosomal protein L5 0.367064
FCRL3 Fc receptor-like 3 0.367064
RELN reelin 0.367064
NRXN1 neurexin 1 0.366647
MOG myelin oligodendrocyte glycoprotein 0.365846
EGFL6 EGF-like-domain, multiple 6 0.36461
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 0.36461
ALPK2 alpha-kinase 2 0.36461
PLCL2 phospholipase C-like 2 0.36461
CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 0.36461
TRIM2 tripartite motif containing 2 0.36461
NLRP11 NLR family, pyrin domain containing 11 0.36461
LRRC16A leucine rich repeat containing 16A 0.364504
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.364054
TIAM1 T-cell lymphoma invasion and metastasis 1 0.36335
FAM179A family with sequence similarity 179, member A 0.362625
TLL1 tolloid-like 1 0.362606
PCSK5 proprotein convertase subtilisin/kexin type 5 0.362606
AXDND1 axonemal dynein light chain domain containing 1 0.360941
MET MET proto-oncogene, receptor tyrosine kinase 0.360941
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma 0.360941
OPCML opioid binding protein/cell adhesion molecule-like 0.360656
TG thyroglobulin 0.360642
KPNB1 karyopherin (importin) beta 1 0.359628
NCKAP5 NCK-associated protein 5 0.359537
LOC100506023 uncharacterized LOC100506023 0.359537
IL12A interleukin 12A 0.359537
GPR75-ASB3 GPR75-ASB3 readthrough 0.359395
VTI1A vesicle transport through interaction with t-SNAREs 1A 0.358325
SAMD12 sterile alpha motif domain containing 12 0.358325
POPDC3 popeye domain containing 3 0.358325
POU2F3 POU class 2 homeobox 3 0.358246
FHIT fragile histidine triad 0.35809
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0.35692
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 0.356635
HSDL1 hydroxysteroid dehydrogenase like 1 0.356635
ETV6 ets variant 6 0.356328
CDH18 cadherin 18, type 2 0.355789
PCDH7 protocadherin 7 0.355694
DYSF dysferlin 0.355415
FAM69A family with sequence similarity 69, member A 0.355323
ELMO1 engulfment and cell motility 1 0.355233
ERBB4 erb-b2 receptor tyrosine kinase 4 0.354622
PHACTR2 phosphatase and actin regulator 2 0.354455
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.35429
TRIM10 tripartite motif containing 10 0.354128
HDAC9 histone deacetylase 9 0.354048
SDCBP2 syndecan binding protein (syntenin) 2 0.353734
NXN nucleoredoxin 0.353506
TBC1D4 TBC1 domain family, member 4 0.352573
CLDN14 claudin 14 0.352438
RNF213 ring finger protein 213 0.352172
PARD3B par-3 family cell polarity regulator beta 0.351786
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0.351537
SMAD3 SMAD family member 3 0.351235
EFNA5 ephrin-A5 0.351
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0.350602
MFSD11 major facilitator superfamily domain containing 11 0.350544
MCTP2 multiple C2 domains, transmembrane 2 0.350424
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 0.350364
GRM7 glutamate receptor, metabotropic 7 0.349618
DGKQ diacylglycerol kinase, theta 110kDa 0.349291
DPPA2 developmental pluripotency associated 2 0.349237
PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha 0.349078
HEMK1 HemK methyltransferase family member 1 0.349025
RBMS3 RNA binding motif, single stranded interacting protein 3 0.348921
MAML3 mastermind-like 3 (Drosophila) 0.348515
CCHCR1 coiled-coil alpha-helical rod protein 1 0.348515
GATC glutamyl-tRNA(Gln) amidotransferase, subunit C 0.348269
CYFIP1 cytoplasmic FMR1 interacting protein 1 0.348269
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.348269
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 0.347933
EVA1A eva-1 homolog A (C. elegans) 0.347563
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 0.347427
CD300A CD300a molecule 0.347383
ZNF423 zinc finger protein 423 0.346902
NSD1 nuclear receptor binding SET domain protein 1 0.346608
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.346566
COL27A1 collagen, type XXVII, alpha 1 0.346443
SLIT3 slit homolog 3 (Drosophila) 0.345433
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 0.345359
DENND1A DENN/MADD domain containing 1A 0.344962
ERG v-ets avian erythroblastosis virus E26 oncogene homolog 0.344927
TGFBR3 transforming growth factor, beta receptor III 0.344892
LRRC4C leucine rich repeat containing 4C 0.344787
PSORS1C2 psoriasis susceptibility 1 candidate 2 0.344683
ANKRD26P3 ankyrin repeat domain 26 pseudogene 3 0.344649
GRIK1 glutamate receptor, ionotropic, kainate 1 0.344512
NRG1 neuregulin 1 0.344378
WBSCR17 Williams-Beuren syndrome chromosome region 17 0.344245
CTNND2 catenin (cadherin-associated protein), delta 2 0.344146
STX8 syntaxin 8 0.344114
E2F5 E2F transcription factor 5, p130-binding 0.343984
MAGEB10 melanoma antigen family B10 0.343888
TNP2 transition protein 2 (during histone to protamine replacement) 0.343574
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.34321
TRAPPC9 trafficking protein particle complex 9 0.343032
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.343
LOC388210 0.343
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.342872
CPVL carboxypeptidase, vitellogenic-like 0.342777
MUC22 mucin 22 0.342589
PTCHD1-AS PTCHD1 antisense RNA (head to head) 0.342374
CPE carboxypeptidase E 0.342103
KSR2 kinase suppressor of ras 2 0.341
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 0.340946
CADM2 cell adhesion molecule 2 0.34076
MUC21 mucin 21, cell surface associated 0.340707
SYN3 synapsin III 0.340577
ZBTB20 zinc finger and BTB domain containing 20 0.340219
KIAA1211 KIAA1211 0.340194
CPNE4 copine IV 0.34007
AACS acetoacetyl-CoA synthetase 0.339537
RIN2 Ras and Rab interactor 2 0.339096
BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 0.338983
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.33876
TRIM26 tripartite motif containing 26 0.338738
ASB3 ankyrin repeat and SOCS box containing 3 0.338629
APOM apolipoprotein M 0.338201
DYX1C1 dyslexia susceptibility 1 candidate 1 0.338117
A2ML1 alpha-2-macroglobulin-like 1 0.337769
PLXNA2 plexin A2 0.337333
CNTN6 contactin 6 0.337065
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.336933
OSBP2 oxysterol binding protein 2 0.336619
IL6 interleukin 6 0.336564
NCF4 neutrophil cytosolic factor 4, 40kDa 0.336564
EPHA6 EPH receptor A6 0.336546
SFSWAP splicing factor, suppressor of white-apricot family 0.336528
LOC158435 uncharacterized LOC158435 0.336492
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 0.336403
ARHGAP17 Rho GTPase activating protein 17 0.336331
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.336208
ZFP69 ZFP69 zinc finger protein 0.335965
IL7 interleukin 7 0.335577
RAB3B RAB3B, member RAS oncogene family 0.335511
HNRNPLL heterogeneous nuclear ribonucleoprotein L-like 0.335106
RRP1B ribosomal RNA processing 1B 0.334948
ALK anaplastic lymphoma receptor tyrosine kinase 0.334765
ARMC9 armadillo repeat containing 9 0.334254
GFI1 growth factor independent 1 transcription repressor 0.334171
AGBL1 ATP/GTP binding protein-like 1 0.334105
KDM4C lysine (K)-specific demethylase 4C 0.334105
TSPAN16 tetraspanin 16 0.334055
IRAK2 interleukin-1 receptor-associated kinase 2 0.333941
GRIK4 glutamate receptor, ionotropic, kainate 4 0.333811
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough 0.333699
DSCAML1 Down syndrome cell adhesion molecule like 1 0.333683
NOL10 nucleolar protein 10 0.333635
TENM4 teneurin transmembrane protein 4 0.333525
CENPM centromere protein M 0.333509
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 0.333493
CHODL chondrolectin 0.333291
RSPO2 R-spondin 2 0.333229
NPAS3 neuronal PAS domain protein 3 0.333183
C1QB complement component 1, q subcomponent, B chain 0.332498
SUSD3 sushi domain containing 3 0.332099
DOCK2 dedicator of cytokinesis 2 0.332043
SORBS2 sorbin and SH3 domain containing 2 0.331932
CADPS2 Ca++-dependent secretion activator 2 0.331808
FBXO32 F-box protein 32 0.331781
USP8 ubiquitin specific peptidase 8 0.331686
HPGDS hematopoietic prostaglandin D synthase 0.331551
DNM3 dynamin 3 0.331417
LRRK1 leucine-rich repeat kinase 1 0.331298
UNC5B unc-5 homolog B (C. elegans) 0.330987
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.330872
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.329435
ICAM3 intercellular adhesion molecule 3 0.328563
PDZD2 PDZ domain containing 2 0.325632
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 0.325435
TTYH2 tweety family member 2 0.324126
IL12RB2 interleukin 12 receptor, beta 2 0.321668
HAPLN1 hyaluronan and proteoglycan link protein 1 0.321444
COL25A1 collagen, type XXV, alpha 1 0.321444
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.317798
FAM19A1 family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 0.315472
MXD1 MAX dimerization protein 1 0.30613
HDGFRP3 hepatoma-derived growth factor, related protein 3 0.305635
DIAPH1 diaphanous-related formin 1 0.304818
CYB5B cytochrome b5 type B (outer mitochondrial membrane) 0.303943
LOC440600 uncharacterized LOC440600 0.302419
KLRB1 killer cell lectin-like receptor subfamily B, member 1 0.300101
DSCAM Down syndrome cell adhesion molecule 0.297183
STK39 serine threonine kinase 39 0.294107