refractive error Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:9835
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Genes

353 genes associated with the disease refractive error in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
DHX15 DEAH (Asp-Glu-Ala-His) box helicase 15 1.72854
LAMA2 laminin, alpha 2 1.68078
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 1.6622
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 1.60174
CHRNG cholinergic receptor, nicotinic, gamma (muscle) 1.59609
SHISA6 shisa family member 6 1.5865
MYO1D myosin ID 1.57556
ZMAT4 zinc finger, matrin-type 4 1.53704
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 1.52524
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 1.46277
PTPRR protein tyrosine phosphatase, receptor type, R 1.45471
GRIA4 glutamate receptor, ionotropic, AMPA 4 1.4479
TJP2 tight junction protein 2 1.44134
C14ORF39 chromosome 14 open reading frame 39 1.42467
MIPEP mitochondrial intermediate peptidase 1.4094
ASPA aspartoacylase 1.39396
PCCA propionyl CoA carboxylase, alpha polypeptide 1.39396
RORB RAR-related orphan receptor B 1.35834
ATOH7 atonal homolog 7 (Drosophila) 1.35273
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 1.33638
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 1.28906
VIPR2 vasoactive intestinal peptide receptor 2 1.26953
RSPO1 R-spondin 1 1.22685
ZNF536 zinc finger protein 536 1.15633
DENND1A DENN/MADD domain containing 1A 1.06296
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 1.06296
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 1.01758
CMSS1 cms1 ribosomal small subunit homolog (yeast) 1.00275
ZEB2 zinc finger E-box binding homeobox 2 0.856349
LOC100129620 uncharacterized LOC100129620 0.824682
LOC646021 0.682799
DCLK1 doublecortin-like kinase 1 0.668836
CHEK2 checkpoint kinase 2 0.668836
FLI1 Fli-1 proto-oncogene, ETS transcription factor 0.638262
BCAS3 breast carcinoma amplified sequence 3 0.624472
PML promyelocytic leukemia 0.60731
RERE arginine-glutamic acid dipeptide (RE) repeats 0.601033
FILIP1L filamin A interacting protein 1-like 0.583648
TMEM30C transmembrane protein 30C 0.563108
SRPK2 SRSF protein kinase 2 0.555938
RFTN1 raftlin, lipid raft linker 1 0.555938
MYPN myopalladin 0.555938
TACC2 transforming, acidic coiled-coil containing protein 2 0.555938
MIR100HG mir-100-let-7a-2 cluster host gene 0.555938
ARID3A AT rich interactive domain 3A (BRIGHT-like) 0.539904
SPTBN1 spectrin, beta, non-erythrocytic 1 0.539904
LRP1B low density lipoprotein receptor-related protein 1B 0.539904
CLSTN2 calsyntenin 2 0.528352
BMP6 bone morphogenetic protein 6 0.528352
TIMELESS timeless circadian clock 0.528352
LOC729305 uncharacterized LOC729305 0.506842
PPP1R3B protein phosphatase 1, regulatory subunit 3B 0.500641
PTPRD protein tyrosine phosphatase, receptor type, D 0.499367
DOCK9 dedicator of cytokinesis 9 0.491952
RPTOR regulatory associated protein of MTOR, complex 1 0.484681
SCFD2 sec1 family domain containing 2 0.484681
GYLTL1B glycosyltransferase-like 1B 0.484681
MIP major intrinsic protein of lens fiber 0.482977
DNAH9 dynein, axonemal, heavy chain 9 0.481016
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.481016
FHIT fragile histidine triad 0.481016
ADGRA2 adhesion G protein-coupled receptor A2 0.481016
TECRL trans-2,3-enoyl-CoA reductase-like 0.481016
ERI1 exoribonuclease 1 0.481016
NSMCE2 non-SMC element 2, MMS21 homolog (S. cerevisiae) 0.479798
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 0.479319
LOC100506085 uncharacterized LOC100506085 0.478563
GATA4 GATA binding protein 4 0.478563
PARP8 poly (ADP-ribose) polymerase family, member 8 0.478563
DENND2A DENN/MADD domain containing 2A 0.478563
TSHR thyroid stimulating hormone receptor 0.478563
CNTN5 contactin 5 0.478563
PEX16 peroxisomal biogenesis factor 16 0.476347
PRRC2C proline-rich coiled-coil 2C 0.47579
CHD4 chromodomain helicase DNA binding protein 4 0.474846
WDR34 WD repeat domain 34 0.474846
IGSF9 immunoglobulin superfamily, member 9 0.473762
ESRRG estrogen-related receptor gamma 0.473391
CAPN9 calpain 9 0.473391
PEX14 peroxisomal biogenesis factor 14 0.473391
BMP2 bone morphogenetic protein 2 0.4731
PHF21A PHD finger protein 21A 0.472637
CTNND2 catenin (cadherin-associated protein), delta 2 0.472092
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.472092
PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 0.472092
STAU2 staufen double-stranded RNA binding protein 2 0.470932
MYH9 myosin, heavy chain 9, non-muscle 0.470932
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 0.470035
SLC44A2 solute carrier family 44 (choline transporter), member 2 0.466182
VAV2 vav 2 guanine nucleotide exchange factor 0.464999
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0.464754
CDKL1 cyclin-dependent kinase-like 1 (CDC2-related kinase) 0.464634
BICC1 BicC family RNA binding protein 1 0.464168
CEP85L centrosomal protein 85kDa-like 0.463195
ARHGAP24 Rho GTPase activating protein 24 0.461169
LY6K lymphocyte antigen 6 complex, locus K 0.460824
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 0.459239
GLIS1 GLIS family zinc finger 1 0.459155
LOC100288181 uncharacterized LOC100288181 0.457836
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 0.456484
LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1 0.456313
ST5 suppression of tumorigenicity 5 0.454635
MEGF11 multiple EGF-like-domains 11 0.45441
MSRA methionine sulfoxide reductase A 0.454373
RAB3C RAB3C, member RAS oncogene family 0.454045
ALPK1 alpha-kinase 1 0.453618
KRT26 keratin 26, type I 0.453514
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 0.453307
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 0.452835
PARVB parvin, beta 0.452348
ZNF717 zinc finger protein 717 0.450292
CTIF CBP80/20-dependent translation initiation factor 0.450088
PXYLP1 2-phosphoxylose phosphatase 1 0.448698
PEMT phosphatidylethanolamine N-methyltransferase 0.448605
GPR180 G protein-coupled receptor 180 0.448575
SORCS3 sortilin-related VPS10 domain containing receptor 3 0.44833
UBASH3A ubiquitin associated and SH3 domain containing A 0.447763
DENND1C DENN/MADD domain containing 1C 0.447386
C19ORF81 chromosome 19 open reading frame 81 0.447243
XYLT1 xylosyltransferase I 0.446684
MPZL1 myelin protein zero-like 1 0.446547
PAX6 paired box 6 0.44652
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 0.446117
FAM45A family with sequence similarity 45, member A 0.44474
LHX6 LIM homeobox 6 0.444716
ADGRV1 adhesion G protein-coupled receptor V1 0.444643
MOCS1 molybdenum cofactor synthesis 1 0.444401
CDH13 cadherin 13 0.444163
LOC100652770 0.443999
RNF125 ring finger protein 125, E3 ubiquitin protein ligase 0.443629
RSU1 Ras suppressor protein 1 0.443606
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.44265
ZMYND11 zinc finger, MYND-type containing 11 0.442559
PRR5 proline rich 5 (renal) 0.441649
PDE11A phosphodiesterase 11A 0.441541
VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) 0.440908
LOC440704 uncharacterized LOC440704 0.440297
DNHD1 dynein heavy chain domain 1 0.440178
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 0.439765
LY86-AS1 LY86 antisense RNA 1 0.438494
AKAP12 A kinase (PRKA) anchor protein 12 0.438137
GPC5 glypican 5 0.437961
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 0.437787
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.437615
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.435981
SLIT3 slit homolog 3 (Drosophila) 0.435825
TENM4 teneurin transmembrane protein 4 0.4338
RBMS3 RNA binding motif, single stranded interacting protein 3 0.433532
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase 0.433269
OR10J1 olfactory receptor, family 10, subfamily J, member 1 0.433009
APOH apolipoprotein H (beta-2-glycoprotein I) 0.431769
COL18A1 collagen, type XVIII, alpha 1 0.43165
TMEM132D transmembrane protein 132D 0.431297
ECE1 endothelin converting enzyme 1 0.430952
SDK1 sidekick cell adhesion molecule 1 0.430952
DMGDH dimethylglycine dehydrogenase 0.430392
HDAC11 histone deacetylase 11 0.42985
SMAD9 SMAD family member 9 0.429533
MIPEPP3 mitochondrial intermediate peptidase pseudogene 3 0.429325
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.42842
NPAS3 neuronal PAS domain protein 3 0.426569
SH2D4B SH2 domain containing 4B 0.426482
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 0.424054
MUSK muscle, skeletal, receptor tyrosine kinase 0.423731
PDZRN4 PDZ domain containing ring finger 4 0.423102
CAPN14 calpain 14 0.422796
BBS2 Bardet-Biedl syndrome 2 0.422645
SLC39A11 solute carrier family 39, member 11 0.422495
OTX2-AS1 OTX2 antisense RNA 1 (head to head) 0.422421
DKFZP451B082 uncharacterized LOC401282 0.422273
APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 0.422199
SNX9 sorting nexin 9 0.421551
WDR62 WD repeat domain 62 0.42148
ASB17 ankyrin repeat and SOCS box containing 17 0.42134
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 0.420994
COL22A1 collagen, type XXII, alpha 1 0.420926
LPPR1 lipid phosphate phosphatase-related protein type 1 0.420722
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.420588
C10ORF11 chromosome 10 open reading frame 11 0.419236
EPAS1 endothelial PAS domain protein 1 0.418928
IL31RA interleukin 31 receptor A 0.418747
GPM6A glycoprotein M6A 0.418627
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 0.418627
NFASC neurofascin 0.418154
CD96 CD96 molecule 0.417751
PRKCE protein kinase C, epsilon 0.417694
MTUS2 microtubule associated tumor suppressor candidate 2 0.41758
LAMC3 laminin, gamma 3 0.417516
PIEZO2 piezo-type mechanosensitive ion channel component 2 0.417452
MTMR7 myotubularin related protein 7 0.417452
KIF16B kinesin family member 16B 0.416641
DPP10 dipeptidyl-peptidase 10 (non-functional) 0.416519
LAMA1 laminin, alpha 1 0.415863
GALC galactosylceramidase 0.415687
ZNF578 zinc finger protein 578 0.415571
ZBTB20 zinc finger and BTB domain containing 20 0.415571
PLEKHA2 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 0.415571
C1QTNF9B C1q and tumor necrosis factor related protein 9B 0.415284
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 0.415114
THRB thyroid hormone receptor, beta 0.414945
C12ORF42 chromosome 12 open reading frame 42 0.414833
METTL24 methyltransferase like 24 0.414667
FLJ45831 0.413908
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.413644
BOLA3 bolA family member 3 0.413488
CCDC184 coiled-coil domain containing 184 0.412773
LYPD6B LY6/PLAUR domain containing 6B 0.412673
IGSF21 immunoglobin superfamily, member 21 0.412278
NME8 NME/NM23 family member 8 0.411747
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 0.411417
AJAP1 adherens junctions associated protein 1 0.411046
PARVA parvin, alpha 0.410955
THSD4 thrombospondin, type I, domain containing 4 0.410728
PLEKHA7 pleckstrin homology domain containing, family A member 7 0.410593
TNIK TRAF2 and NCK interacting kinase 0.41037
PELI2 pellino E3 ubiquitin protein ligase family member 2 0.409975
DHX34 DEAH (Asp-Glu-Ala-His) box polypeptide 34 0.409588
PCDH15 protocadherin-related 15 0.409461
PLXNA4 plexin A4 0.409461
KSR2 kinase suppressor of ras 2 0.409377
ABHD17C abhydrolase domain containing 17C 0.409043
SOX5 SRY (sex determining region Y)-box 5 0.40896
WIPI2 WD repeat domain, phosphoinositide interacting 2 0.408755
STRN striatin, calmodulin binding protein 0.408272
LYPD6 LY6/PLAUR domain containing 6 0.407379
SEC63 SEC63 homolog (S. cerevisiae) 0.407335
ERICH6B glutamate-rich 6B 0.407247
SV2B synaptic vesicle glycoprotein 2B 0.406512
C5ORF42 chromosome 5 open reading frame 42 0.40647
C16ORF62 chromosome 16 open reading frame 62 0.406385
CHD2 chromodomain helicase DNA binding protein 2 0.406217
MCPH1 microcephalin 1 0.405967
BDNF-AS BDNF antisense RNA 0.405925
CPNE5 copine V 0.405843
UNC5C unc-5 homolog C (C. elegans) 0.405801
HEATR4 HEAT repeat containing 4 0.40576
PCDH7 protocadherin 7 0.405638
MSH4 mutS homolog 4 0.405597
SFXN4 sideroflexin 4 0.405475
ITGBL1 integrin, beta-like 1 (with EGF-like repeat domains) 0.405475
THAP8 THAP domain containing 8 0.405033
TNNI3K TNNI3 interacting kinase 0.404954
RBM19 RNA binding motif protein 19 0.404757
INADL InaD-like (Drosophila) 0.404718
FREM1 FRAS1 related extracellular matrix 1 0.404639
ETV6 ets variant 6 0.404561
DZIP3 DAZ interacting zinc finger protein 3 0.404484
EML1 echinoderm microtubule associated protein like 1 0.404368
DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 0.404291
BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 0.403872
KCNK9 potassium channel, two pore domain subfamily K, member 9 0.403872
SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 0.403573
CABP7 calcium binding protein 7 0.403498
PRKG1 protein kinase, cGMP-dependent, type I 0.403498
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 0.403424
EXOC2 exocyst complex component 2 0.403277
MTUS1 microtubule associated tumor suppressor 1 0.403204
CNTN3 contactin 3 (plasmacytoma associated) 0.403204
FOXO1 forkhead box O1 0.403131
PROM1 prominin 1 0.403022
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 0.402877
CNTN4 contactin 4 0.402029
ANKRD30B ankyrin repeat domain 30B 0.401925
ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 0.401822
NCKAP5L NCK-associated protein 5-like 0.401685
ARHGAP18 Rho GTPase activating protein 18 0.401549
ARHGDIB Rho GDP dissociation inhibitor (GDI) beta 0.401549
STARD13 StAR-related lipid transfer (START) domain containing 13 0.401448
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1 0.401414
SIPA1L2 signal-induced proliferation-associated 1 like 2 0.401213
CNIH3 cornichon family AMPA receptor auxiliary protein 3 0.401113
ATXN1 ataxin 1 0.400783
MACROD2 MACRO domain containing 2 0.400522
DDAH1 dimethylarginine dimethylaminohydrolase 1 0.400522
ENOX1 ecto-NOX disulfide-thiol exchanger 1 0.400329
MAPRE2 microtubule-associated protein, RP/EB family, member 2 0.400329
ME3 malic enzyme 3, NADP(+)-dependent, mitochondrial 0.400297
RARS arginyl-tRNA synthetase 0.400297
MYO18B myosin XVIIIB 0.400201
ARSB arylsulfatase B 0.400169
PCDHGA1 protocadherin gamma subfamily A, 1 0.399884
FBXO36 F-box protein 36 0.399759
MYH13 myosin, heavy chain 13, skeletal muscle 0.399511
SMIM23 small integral membrane protein 23 0.39948
TAF7 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 0.399387
GBA3 glucosidase, beta, acid 3 (gene/pseudogene) 0.399173
DPYD dihydropyrimidine dehydrogenase 0.399082
NETO1 neuropilin (NRP) and tolloid (TLL)-like 1 0.399052
UBE2L3 ubiquitin-conjugating enzyme E2L 3 0.398692
ABI3BP ABI family, member 3 (NESH) binding protein 0.398633
CASP6 caspase 6, apoptosis-related cysteine peptidase 0.398573
SGCE sarcoglycan, epsilon 0.398396
PRDM10 PR domain containing 10 0.398076
RELN reelin 0.397989
HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 0.397874
COX7B2 cytochrome c oxidase subunit VIIb2 0.397789
ACSL5 acyl-CoA synthetase long-chain family member 5 0.397732
EDIL3 EGF-like repeats and discoidin I-like domains 3 0.397477
MYO3B myosin IIIB 0.397393
RGL1 ral guanine nucleotide dissociation stimulator-like 1 0.397309
FANCI Fanconi anemia, complementation group I 0.39717
TARBP1 TAR (HIV-1) RNA binding protein 1 0.397114
SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 0.397059
CSMD1 CUB and Sushi multiple domains 1 0.397059
MTCL1 microtubule crosslinking factor 1 0.396877
ICAM3 intercellular adhesion molecule 3 0.396813
CPEB3 cytoplasmic polyadenylation element binding protein 3 0.396781
FRAS1 Fraser extracellular matrix complex subunit 1 0.396749
VAV3 vav 3 guanine nucleotide exchange factor 0.396621
PLD5 phospholipase D family, member 5 0.396494
SLC22A13 solute carrier family 22 (organic anion/urate transporter), member 13 0.396336
GPATCH2L G patch domain containing 2-like 0.396055
ERBB4 erb-b2 receptor tyrosine kinase 4 0.396023
IRX2 iroquois homeobox 2 0.39593
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8 0.39593
ST14 suppression of tumorigenicity 14 (colon carcinoma) 0.39547
GRM7 glutamate receptor, metabotropic 7 0.395018
ITGA11 integrin, alpha 11 0.394959
AIM1 absent in melanoma 1 0.394929
MAP3K13 mitogen-activated protein kinase kinase kinase 13 0.394899
MOB1A MOB kinase activator 1A 0.394899
ZNF727 zinc finger protein 727 0.394899
CHURC1-FNTB CHURC1-FNTB readthrough 0.39484
HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 0.394751
NCALD neurocalcin delta 0.394751
FAM169A family with sequence similarity 169, member A 0.394692
ASIC2 acid sensing (proton gated) ion channel 2 0.394633
BPIFC BPI fold containing family C 0.394487
FBXO41 F-box protein 41 0.394428
UNC80 unc-80 homolog (C. elegans) 0.394428
DLEU2 deleted in lymphocytic leukemia 2 (non-protein coding) 0.394254
CHURC1 churchill domain containing 1 0.394023
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 0.393937
EXD2 exonuclease 3'-5' domain containing 2 0.393909
GRM4 glutamate receptor, metabotropic 4 0.39388
SLC26A9 solute carrier family 26 (anion exchanger), member 9 0.393852
ITIH5 inter-alpha-trypsin inhibitor heavy chain family, member 5 0.393852
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.393766
CNTN6 contactin 6 0.393681
AGBL4 ATP/GTP binding protein-like 4 0.39354
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 0.393484
ABLIM2 actin binding LIM protein family, member 2 0.393204
TMEM244 transmembrane protein 244 0.392791
PDGFD platelet derived growth factor D 0.392791
TSPAN5 tetraspanin 5 0.392764
C4ORF19 chromosome 4 open reading frame 19 0.392655
ROCK1P1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 0.392601
MN1 meningioma (disrupted in balanced translocation) 1 0.392493
CASD1 CAS1 domain containing 1 0.392466
USH2A Usher syndrome 2A (autosomal recessive, mild) 0.392358
CCSER1 coiled-coil serine-rich protein 1 0.392224
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.392144
ZNF462 zinc finger protein 462 0.392011