abnormality of the cornea Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. (Human Phenotype Ontology, HP_0000481)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000481
Similar Terms
Downloads & Tools

Genes

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

Symbol Name Standardized Value
LRRK1 leucine-rich repeat kinase 1 1.90666
TCF4 transcription factor 4 1.90008
LPAR1 lysophosphatidic acid receptor 1 1.52822
COL5A1 collagen, type V, alpha 1 1.52822
FNDC3B fibronectin type III domain containing 3B 1.52822
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 1.45123
TMEM248 transmembrane protein 248 1.40061
CWC27 CWC27 spliceosome-associated protein homolog (S. cerevisiae) 1.39776
SMAD3 SMAD family member 3 1.37994
ARID5B AT rich interactive domain 5B (MRF1-like) 1.37339
TMEM132C transmembrane protein 132C 1.35917
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 1.35521
CHSY1 chondroitin sulfate synthase 1 1.32793
LINC00578 long intergenic non-protein coding RNA 578 1.24751
USP37 ubiquitin specific peptidase 37 1.24705
NR3C2 nuclear receptor subfamily 3, group C, member 2 1.18704
SOX5 SRY (sex determining region Y)-box 5 1.17163
PTPRD protein tyrosine phosphatase, receptor type, D 1.16579
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 1.16517
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 1.07892
MACROD2 MACRO domain containing 2 1.06373
PTPRG protein tyrosine phosphatase, receptor type, G 1.04365
UBXN4 UBX domain protein 4 1.04365
AKAP13 A kinase (PRKA) anchor protein 13 1.02205
TTLL4 tubulin tyrosine ligase-like family member 4 1.01617
CS citrate synthase 0.962749
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 0.945838
KCTD7 potassium channel tetramerization domain containing 7 0.945118
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.942765
ADORA3 adenosine A3 receptor 0.933183
LOC400655 uncharacterized LOC400655 0.919947
NUB1 negative regulator of ubiquitin-like proteins 1 0.890508
PAN2 PAN2 poly(A) specific ribonuclease subunit 0.837193
NCAM2 neural cell adhesion molecule 2 0.778318
LRP1B low density lipoprotein receptor-related protein 1B 0.710801
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 0.624663
ADAM23 ADAM metallopeptidase domain 23 0.578246
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 0.500004
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 0.449471
TIMP3 TIMP metallopeptidase inhibitor 3 0.426141
MTOR mechanistic target of rapamycin (serine/threonine kinase) 0.400597
GPC6 glypican 6 0.336547
VAX2 ventral anterior homeobox 2 0.331439
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.328357
LOC729173 uncharacterized LOC729173 0.326183
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 0.321238
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 0.319009
DNAH5 dynein, axonemal, heavy chain 5 0.318077
PDE4D phosphodiesterase 4D, cAMP-specific 0.311139
MAML2 mastermind-like 2 (Drosophila) 0.311139
SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B 0.311139
BICC1 BicC family RNA binding protein 1 0.306729
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.303627
LMO7 LIM domain 7 0.303627
PTN pleiotrophin 0.301475
WIPF3 WAS/WASL interacting protein family, member 3 0.300932
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 0.300932
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 0.300932
FLJ45872 0.298516
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 0.298516
NXPH1 neurexophilin 1 0.296483
THSD7B thrombospondin, type I, domain containing 7B 0.29473
TMPRSS9 transmembrane protease, serine 9 0.29473
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 0.293189
USP53 ubiquitin specific peptidase 53 0.293189
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 0.291181
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 0.287737
PRICKLE2 prickle homolog 2 (Drosophila) 0.278053
STX8 syntaxin 8 0.274438
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 0.273186
RFX8 RFX family member 8, lacking RFX DNA binding domain 0.271328
IFIH1 interferon induced with helicase C domain 1 0.26933
AATF apoptosis antagonizing transcription factor 0.268452
SNTG1 syntrophin, gamma 1 0.266531
DSP desmoplakin 0.263789
PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 0.25755
PXDNL peroxidasin-like 0.257261
CNBD1 cyclic nucleotide binding domain containing 1 0.255206
TRIM67 tripartite motif containing 67 0.253791
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.252492
ADAM18 ADAM metallopeptidase domain 18 0.239958
CSMD1 CUB and Sushi multiple domains 1 0.2328
CASS4 Cas scaffolding protein family member 4 0.224479