eye disease Gene Set

Dataset DISEASES Experimental Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An eye and adnexa disease that is located_in the eye. (Human Disease Ontology, DOID_5614)
Similar Terms
Downloads & Tools

Genes

228 genes associated with the disease eye disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
HTRA1 HtrA serine peptidase 1 3.31608
CFH complement factor H 3.31608
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 2.50425
TGFBR3 transforming growth factor, beta receptor III 1.6758
LOXL1 lysyl oxidase-like 1 1.67092
CFB complement factor B 1.51016
APOC1 apolipoprotein C-I 1.37597
LRRK1 leucine-rich repeat kinase 1 1.30085
TCF4 transcription factor 4 1.2894
ATOH7 atonal homolog 7 (Drosophila) 1.07383
KIAA0825 KIAA0825 1.06123
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 1.05198
MTAP methylthioadenosine phosphorylase 1.05198
FOXO1 forkhead box O1 0.987984
BICC1 BicC family RNA binding protein 1 0.945428
COL8A1 collagen, type VIII, alpha 1 0.923046
IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase 0.894262
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a 0.894262
LAMA2 laminin, alpha 2 0.872896
CARD10 caspase recruitment domain family, member 10 0.85991
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 0.850113
COL5A1 collagen, type V, alpha 1 0.842276
FNDC3B fibronectin type III domain containing 3B 0.842276
PLEKHA7 pleckstrin homology domain containing, family A member 7 0.842276
LPAR1 lysophosphatidic acid receptor 1 0.842276
PRR31 proline rich 31 0.835734
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 0.817078
SIX1 SIX homeobox 1 0.817078
IER3 immediate early response 3 0.790827
SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8 0.790827
CAV1 caveolin 1, caveolae protein, 22kDa 0.790827
NOTCH4 notch 4 0.790827
TGFBR1 transforming growth factor, beta receptor 1 0.774217
COL8A2 collagen, type VIII, alpha 2 0.774217
LIPC lipase, hepatic 0.774217
TJP1 tight junction protein 1 0.774217
CHRNG cholinergic receptor, nicotinic, gamma (muscle) 0.752991
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.752991
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 0.745324
SHISA6 shisa family member 6 0.738873
CCDC109B coiled-coil domain containing 109B 0.738873
CHRND cholinergic receptor, nicotinic, delta (muscle) 0.73332
RAD51B RAD51 paralog B 0.728541
MYO1D myosin ID 0.724323
GLT8D2 glycosyltransferase 8 domain containing 2 0.69843
NELFE negative elongation factor complex member E 0.69843
TMEM248 transmembrane protein 248 0.682635
ZMAT4 zinc finger, matrin-type 4 0.670996
CFI complement factor I 0.670996
SMAD3 SMAD family member 3 0.661797
ARID5B AT rich interactive domain 5B (MRF1-like) 0.65413
ZFPM2 zinc finger protein, FOG family member 2 0.63666
COL11A1 collagen, type XI, alpha 1 0.63666
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 0.63207
MAP3K19 mitogen-activated protein kinase kinase kinase 19 0.63207
ATF6B activating transcription factor 6 beta 0.63207
TNXB tenascin XB 0.63207
CHSY1 chondroitin sulfate synthase 1 0.602429
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 0.602429
ARHGAP22 Rho GTPase activating protein 22 0.602429
SRBD1 S1 RNA binding domain 1 0.58494
VKORC1L1 vitamin K epoxide reductase complex, subunit 1-like 1 0.572184
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5 0.572184
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 0.561725
PTPRR protein tyrosine phosphatase, receptor type, R 0.561725
GRIA4 glutamate receptor, ionotropic, AMPA 4 0.552621
TJP2 tight junction protein 2 0.544585
CETP cholesteryl ester transfer protein, plasma 0.544585
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 0.537125
VEGFA vascular endothelial growth factor A 0.5306
PLXDC2 plexin domain containing 2 0.5306
DCLK1 doublecortin-like kinase 1 0.52461
C3 complement component 3 0.52461
FRK fyn-related Src family tyrosine kinase 0.52461
GK2 glycerol kinase 2 0.52461
C14ORF39 chromosome 14 open reading frame 39 0.52461
GAS7 growth arrest-specific 7 0.52461
CHEK2 checkpoint kinase 2 0.52461
KCNMB2 potassium channel subfamily M regulatory beta subunit 2 0.52461
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 0.486425
BMP2 bone morphogenetic protein 2 0.486425
B3GALTL beta 1,3-galactosyltransferase-like 0.486425
NT5DC1 5'-nucleotidase domain containing 1 0.486425
COL10A1 collagen, type X, alpha 1 0.486425
REST RE1-silencing transcription factor 0.486425
PCCA propionyl CoA carboxylase, alpha polypeptide 0.486425
TMCO1 transmembrane and coiled-coil domains 1 0.486425
BCAS3 breast carcinoma amplified sequence 3 0.464771
RORB RAR-related orphan receptor B 0.449873
NR3C2 nuclear receptor subfamily 3, group C, member 2 0.449873
RERE arginine-glutamic acid dipeptide (RE) repeats 0.429338
ZWINT ZW10 interacting kinetochore protein 0.408752
ZBTB18 zinc finger and BTB domain containing 18 0.403461
VAX2 ventral anterior homeobox 2 0.368757
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 0.368757
TXNRD2 thioredoxin reductase 2 0.368757
ARID3A AT rich interactive domain 3A (BRIGHT-like) 0.345945
PLA2G12A phospholipase A2, group XIIA 0.345945
MYSM1 Myb-like, SWIRM and MPN domains 1 0.345945
SOD2 superoxide dismutase 2, mitochondrial 0.345945
MBP myelin basic protein 0.327313
NCKAP5 NCK-associated protein 5 0.327313
FSTL5 follistatin-like 5 0.327313
MCHR2 melanin-concentrating hormone receptor 2 0.311576
STOML1 stomatin (EPB72)-like 1 0.311576
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.297866
SATB2 SATB homeobox 2 0.297866
CCNL1 cyclin L1 0.285417
VEPH1 ventricular zone expressed PH domain-containing 1 0.264872
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 0.256228
TBC1D21 TBC1 domain family, member 21 0.256228
PTPRG protein tyrosine phosphatase, receptor type, G 0.256228
RREB1 ras responsive element binding protein 1 0.256228
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 0.256228
UBXN4 UBX domain protein 4 0.256228
BMP3 bone morphogenetic protein 3 0.256228
KIAA1551 KIAA1551 0.256228
NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 0.256228
DNAH5 dynein, axonemal, heavy chain 5 0.256228
BHLHE40 basic helix-loop-helix family, member e40 0.197766
SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B 0.197766
EYS eyes shut homolog (Drosophila) 0.197766
SCPEP1 serine carboxypeptidase 1 0.197766
MAML2 mastermind-like 2 (Drosophila) 0.197766
AMY1A amylase, alpha 1A (salivary) 0.197766
FOXF1 forkhead box F1 0.197766
MBL2 mannose-binding lectin (protein C) 2, soluble 0.197766
PTGES3 prostaglandin E synthase 3 (cytosolic) 0.197766
INSR insulin receptor 0.15771
UST uronyl-2-sulfotransferase 0.15771
TYR tyrosinase 0.126165
LMO7 LIM domain 7 0.126165
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.126165
MC4R melanocortin 4 receptor 0.126165
ELOVL5 ELOVL fatty acid elongase 5 0.126165
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 0.126165
OSCP1 organic solute carrier partner 1 0.126165
TIPARP TCDD-inducible poly(ADP-ribose) polymerase 0.100789
KLHDC7A kelch domain containing 7A 0.100789
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3 0.100789
POU5F1B POU class 5 homeobox 1B 0.100789
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 0.100789
C1ORF132 chromosome 1 open reading frame 132 0.100789
NMRK2 nicotinamide riboside kinase 2 0.080593
POSTN periostin, osteoblast specific factor 0.080593
KCNK1 potassium channel, two pore domain subfamily K, member 1 0.080593
MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 0.080593
MPRIP myosin phosphatase Rho interacting protein 0.064973
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) 0.064973
WDR27 WD repeat domain 27 0.064973
TNR tenascin R 0.064973
CREB5 cAMP responsive element binding protein 5 0.064973
RAB30 RAB30, member RAS oncogene family 0.052255
SGCZ sarcoglycan, zeta 0.052255
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 0.052255
THSD7B thrombospondin, type I, domain containing 7B 0.052255
CLIC5 chloride intracellular channel 5 0.052255
USP53 ubiquitin specific peptidase 53 0.043246
GRAMD3 GRAM domain containing 3 0.043246
BNC2 basonuclin 2 0.043246
GLI3 GLI family zinc finger 3 0.043246
CDH8 cadherin 8, type 2 0.010245
DHX15 DEAH (Asp-Glu-Ala-His) box helicase 15 0.010196
SAMD5 sterile alpha motif domain containing 5 0.009775
KNG1 kininogen 1 0.00936
CADM2 cell adhesion molecule 2 0.00891
KLF5 Kruppel-like factor 5 (intestinal) 0.008687
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 0.008572
MIPEP mitochondrial intermediate peptidase 0.008503
ASPA aspartoacylase 0.008428
C3ORF58 chromosome 3 open reading frame 58 0.00832
ANXA6 annexin A6 0.00832
ZNF285 zinc finger protein 285 0.008181
NAV3 neuron navigator 3 0.008141
TPT1 tumor protein, translationally-controlled 1 0.007492
MTOR mechanistic target of rapamycin (serine/threonine kinase) 0.007354
C4ORF32 chromosome 4 open reading frame 32 0.007195
ZNF536 zinc finger protein 536 0.006871
DENND1A DENN/MADD domain containing 1A 0.006298
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.006045
SCML4 sex comb on midleg-like 4 (Drosophila) 0.005785
ADCY2 adenylate cyclase 2 (brain) 0.005243
ZNF692 zinc finger protein 692 0.004714
LPPR5 lipid phosphate phosphatase-related protein type 5 0.004714
FABP5 fatty acid binding protein 5 (psoriasis-associated) 0.004196
HABP2 hyaluronan binding protein 2 0.003956
RNF135 ring finger protein 135 0.003737
FLI1 Fli-1 proto-oncogene, ETS transcription factor 0.003315
SFRP4 secreted frizzled-related protein 4 0.002996
PML promyelocytic leukemia 0.002904
PDE7A phosphodiesterase 7A 0.002618
OR5M3 olfactory receptor, family 5, subfamily M, member 3 0.002332
SRPK2 SRSF protein kinase 2 0.002332
TACC2 transforming, acidic coiled-coil containing protein 2 0.002332
SPTBN1 spectrin, beta, non-erythrocytic 1 0.002174
BMP6 bone morphogenetic protein 6 0.002075
CA8 carbonic anhydrase VIII 0.002075
CLSTN2 calsyntenin 2 0.002075
LPP LIM domain containing preferred translocation partner in lipoma 0.001998
PPP1R3B protein phosphatase 1, regulatory subunit 3B 0.001935
PTPRD protein tyrosine phosphatase, receptor type, D 0.001795
GCOM1 GRINL1A complex locus 1 0.001758
CHAF1B chromatin assembly factor 1, subunit B (p60) 0.00153
RPTOR regulatory associated protein of MTOR, complex 1 0.00153
TAC1 tachykinin, precursor 1 0.00153
AP1B1 adaptor-related protein complex 1, beta 1 subunit 0.001418
MSRA methionine sulfoxide reductase A 0.001418
FHIT fragile histidine triad 0.001418
DNAH9 dynein, axonemal, heavy chain 9 0.001418
NUDCD1 NudC domain containing 1 0.001418
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase 0.001418
ERI1 exoribonuclease 1 0.001418
GATA4 GATA binding protein 4 0.001339
SEMA4F sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 0.001339
PARP8 poly (ADP-ribose) polymerase family, member 8 0.001339
CNTN5 contactin 5 0.001339
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.001339
MFAP3L microfibrillar-associated protein 3-like 0.001339
WIPF3 WAS/WASL interacting protein family, member 3 0.001277
CHD4 chromodomain helicase DNA binding protein 4 0.001227
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 0.001227
EIF3H eukaryotic translation initiation factor 3, subunit H 0.001184
CAPN9 calpain 9 0.001184
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) 0.001184
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.001148
CTNND2 catenin (cadherin-associated protein), delta 2 0.001148
RUNX1 runt-related transcription factor 1 0.001148
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 0.001115