abnormality of the anterior segment of the eye Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the anterior segment of the eye. (Human Phenotype Ontology, HP_0004328)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0004328
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Genes

162 genes associated with the abnormality of the anterior segment of the eye phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 2.33104
OCA2 oculocutaneous albinism II 2.23031
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.937423
TCF4 transcription factor 4 0.40587
LRRK1 leucine-rich repeat kinase 1 0.392312
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 0.388821
CHSY1 chondroitin sulfate synthase 1 0.360381
MTOR mechanistic target of rapamycin (serine/threonine kinase) 0.348015
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1 0.341493
FNDC3B fibronectin type III domain containing 3B 0.337544
LPAR1 lysophosphatidic acid receptor 1 0.337544
COL5A1 collagen, type V, alpha 1 0.337544
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 0.326022
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.325186
TMEM248 transmembrane protein 248 0.317098
CWC27 CWC27 spliceosome-associated protein homolog (S. cerevisiae) 0.316743
SMAD3 SMAD family member 3 0.314022
ARID5B AT rich interactive domain 5B (MRF1-like) 0.31277
TMEM132C transmembrane protein 132C 0.310029
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 0.309281
LINC00578 long intergenic non-protein coding RNA 578 0.291815
USP37 ubiquitin specific peptidase 37 0.291734
NR3C2 nuclear receptor subfamily 3, group C, member 2 0.279457
SOX5 SRY (sex determining region Y)-box 5 0.27556
PTPRD protein tyrosine phosphatase, receptor type, D 0.273971
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 0.273803
FAM19A1 family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 0.273366
GPC6 glypican 6 0.270874
VAX2 ventral anterior homeobox 2 0.263857
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.259664
LOC729173 uncharacterized LOC729173 0.256714
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 0.25288
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 0.251031
MACROD2 MACRO domain containing 2 0.250458
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 0.248394
UBXN4 UBX domain protein 4 0.247235
PTPRG protein tyrosine phosphatase, receptor type, G 0.247235
DNAH5 dynein, axonemal, heavy chain 5 0.247235
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.247235
AKAP13 A kinase (PRKA) anchor protein 13 0.243401
TTLL4 tubulin tyrosine ligase-like family member 4 0.242309
SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B 0.239689
PDE4D phosphodiesterase 4D, cAMP-specific 0.239689
MAML2 mastermind-like 2 (Drosophila) 0.239689
BICC1 BicC family RNA binding protein 1 0.235335
PPARD peroxisome proliferator-activated receptor delta 0.235335
CS citrate synthase 0.234513
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 0.232622
KCTD7 potassium channel tetramerization domain containing 7 0.23254
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.232272
LMO7 LIM domain 7 0.232272
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.232272
ADORA3 adenosine A3 receptor 0.231286
PTN pleiotrophin 0.230341
LOC400655 uncharacterized LOC400655 0.229932
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 0.22991
CCDC102A coiled-coil domain containing 102A 0.22991
WIPF3 WAS/WASL interacting protein family, member 3 0.22991
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 0.22991
FLJ45872 0.227828
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 0.227828
NUB1 negative regulator of ubiquitin-like proteins 1 0.226784
NXPH1 neurexophilin 1 0.225995
TMPRSS9 transmembrane protease, serine 9 0.224413
THSD7B thrombospondin, type I, domain containing 7B 0.224413
USP53 ubiquitin specific peptidase 53 0.223022
MTG2 mitochondrial ribosome-associated GTPase 2 0.221782
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 0.221209
PAN2 PAN2 poly(A) specific ribonuclease subunit 0.220987
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 0.218097
NCAM2 neural cell adhesion molecule 2 0.214302
PRICKLE2 prickle homolog 2 (Drosophila) 0.210649
MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 0.209886
KDM7A lysine (K)-specific demethylase 7A 0.209056
STX8 syntaxin 8 0.207901
LRP1B low density lipoprotein receptor-related protein 1B 0.207597
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 0.206913
NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 0.205506
RFX8 RFX family member 8, lacking RFX DNA binding domain 0.205201
IFIH1 interferon induced with helicase C domain 1 0.203361
PFKL phosphofructokinase, liver 0.203016
AATF apoptosis antagonizing transcription factor 0.202625
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 0.202461
SNTG1 syntrophin, gamma 1 0.201068
TMEM45A transmembrane protein 45A 0.199988
DSP desmoplakin 0.198845
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 0.198701
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit 0.197909
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 0.197909
DOCK2 dedicator of cytokinesis 2 0.196115
ADAM23 ADAM metallopeptidase domain 23 0.193804
PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 0.193776
PXDNL peroxidasin-like 0.193541
ARMC4 armadillo repeat containing 4 0.193135
CNBD1 cyclic nucleotide binding domain containing 1 0.191868
TRIM67 tripartite motif containing 67 0.190715
KLHL3 kelch-like family member 3 0.189657
MEP1A meprin A, alpha (PABA peptide hydrolase) 0.189657
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.189657
ZDHHC21 zinc finger, DHHC-type containing 21 0.188679
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 0.188679
TRIM62 tripartite motif containing 62 0.188679
RUFY3 RUN and FYVE domain containing 3 0.188679
CNOT11 CCR4-NOT transcription complex, subunit 11 0.187771
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 0.187771
CDK6 cyclin-dependent kinase 6 0.186924
TANGO6 transport and golgi organization 6 homolog (Drosophila) 0.18337
IVD isovaleryl-CoA dehydrogenase 0.182188
PDE3B phosphodiesterase 3B, cGMP-inhibited 0.182188
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) 0.181583
GUCA1C guanylate cyclase activator 1C 0.181583
SCN9A sodium channel, voltage gated, type IX alpha subunit 0.181583
COPB1 coatomer protein complex, subunit beta 1 0.180909
ZNF704 zinc finger protein 704 0.180263
DDA1 DET1 and DDB1 associated 1 0.179641
ADAM18 ADAM metallopeptidase domain 18 0.179641
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 0.179044
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 0.179044
PARL presenilin associated, rhomboid-like 0.179044
SASH1 SAM and SH3 domain containing 1 0.177912
ZNF30 zinc finger protein 30 0.177912
TCN2 transcobalamin II 0.177376
SPTA1 spectrin, alpha, erythrocytic 1 0.177376
ZNF792 zinc finger protein 792 0.176857
USO1 USO1 vesicle transport factor 0.174491
ERAL1 Era-like 12S mitochondrial rRNA chaperone 1 0.173226
HEPHL1 hephaestin-like 1 0.172826
CSMD1 CUB and Sushi multiple domains 1 0.172826
ZC3H4 zinc finger CCCH-type containing 4 0.172436
GRSF1 G-rich RNA sequence binding factor 1 0.172056
ICA1L islet cell autoantigen 1,69kDa-like 0.172056
ELOVL6 ELOVL fatty acid elongase 6 0.171684
HSPA8 heat shock 70kDa protein 8 0.171684
RLF rearranged L-myc fusion 0.170282
C7ORF50 chromosome 7 open reading frame 50 0.16995
NAGA N-acetylgalactosaminidase, alpha- 0.16995
TBCD tubulin folding cofactor D 0.169307
USP44 ubiquitin specific peptidase 44 0.16869
C8ORF34 chromosome 8 open reading frame 34 0.167525
ROCK1 Rho-associated, coiled-coil containing protein kinase 1 0.167525
STPG2 sperm-tail PG-rich repeat containing 2 0.166705
ANPEP alanyl (membrane) aminopeptidase 0.166182
SLC47A2 solute carrier family 47 (multidrug and toxin extrusion), member 2 0.165677
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 0.165577
CASS4 Cas scaffolding protein family member 4 0.16543
TRAF3IP2-AS1 TRAF3IP2 antisense RNA 1 0.164948
FAM222B family with sequence similarity 222, member B 0.16448
FAM117B family with sequence similarity 117, member B 0.164027
CRX cone-rod homeobox 0.163586
CELA3A chymotrypsin-like elastase family, member 3A 0.163586
BPTF bromodomain PHD finger transcription factor 0.163371
CCDC33 coiled-coil domain containing 33 0.163158
MRPL30 mitochondrial ribosomal protein L30 0.162742
TRAF4 TNF receptor-associated factor 4 0.161181
LIN7B lin-7 homolog B (C. elegans) 0.160997
CDKL2 cyclin-dependent kinase-like 2 (CDC2-related kinase) 0.160997
ANGEL2 angel homolog 2 (Drosophila) 0.160815
KNSTRN kinetochore-localized astrin/SPAG5 binding protein 0.160281
DBF4 DBF4 zinc finger 0.160108
TIMP3 TIMP metallopeptidase inhibitor 3 0.159465
CEP192 centrosomal protein 192kDa 0.159268
SLC25A40 solute carrier family 25, member 40 0.158785