retinopathy Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any disease or disorder of the retina. (Experimental Factor Ontology, EFO_0003839)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000488
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Genes

111 genes associated with the retinopathy phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
KIAA0825 KIAA0825 1.73304
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 1.45654
ARHGAP22 Rho GTPase activating protein 22 1.32793
LOC339529 uncharacterized LOC339529 1.15352
PLXDC2 plexin domain containing 2 1.11203
MYSM1 Myb-like, SWIRM and MPN domains 1 1.11203
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) 1.11203
TBC1D4 TBC1 domain family, member 4 1.09432
LMO7 LIM domain 7 1.08891
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 1.07729
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 1.04054
TMEM132D transmembrane protein 132D 1.02042
WRN Werner syndrome, RecQ helicase-like 1.01655
CYP27C1 cytochrome P450, family 27, subfamily C, polypeptide 1 1.01499
AIG1 androgen-induced 1 0.990592
ARHGAP42 Rho GTPase activating protein 42 0.987778
VEPH1 ventricular zone expressed PH domain-containing 1 0.981095
TENM4 teneurin transmembrane protein 4 0.969142
INSR insulin receptor 0.969142
CCDC101 coiled-coil domain containing 101 0.966449
CTIF CBP80/20-dependent translation initiation factor 0.964882
NUPR1 nuclear protein, transcriptional regulator, 1 0.963857
GRK5 G protein-coupled receptor kinase 5 0.943463
OSCP1 organic solute carrier partner 1 0.942765
LOC100506023 uncharacterized LOC100506023 0.942765
COMMD6 COMM domain containing 6 0.940413
TVP23B trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) 0.923916
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 0.921803
KLHL22 kelch-like family member 22 0.899912
CEMIP cell migration inducing protein, hyaluronan binding 0.894316
ZNRF1 zinc and ring finger 1, E3 ubiquitin protein ligase 0.886251
CREB5 cAMP responsive element binding protein 5 0.882984
PCSK2 proprotein convertase subtilisin/kexin type 2 0.879831
LOC728755 uncharacterized LOC728755 0.874864
HDAC9 histone deacetylase 9 0.869471
KAZN kazrin, periplakin interacting protein 0.869471
MALRD1 MAM and LDL receptor class A domain containing 1 0.866894
SULT1A2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 0.860376
AKAP11 A kinase (PRKA) anchor protein 11 0.846368
SPAG16 sperm associated antigen 16 0.844241
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.834343
KRT74 keratin 74, type II 0.834343
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 0.809986
USP5 ubiquitin specific peptidase 5 (isopeptidase T) 0.809986
LINC00477 long intergenic non-protein coding RNA 477 0.802966
LHFP lipoma HMGIC fusion partner 0.790435
TPI1 triosephosphate isomerase 1 0.778318
DPP10 dipeptidyl-peptidase 10 (non-functional) 0.734535
LRRC23 leucine rich repeat containing 23 0.734535
HDAC4 histone deacetylase 4 0.734535
SVIL supervillin 0.718314
FRMD4B FERM domain containing 4B 0.718314
TSNARE1 t-SNARE domain containing 1 0.718314
PDE4B phosphodiesterase 4B, cAMP-specific 0.714661
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 0.707523
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.697013
PACRG PARK2 co-regulated 0.690584
NPSR1 neuropeptide S receptor 1 0.687523
PTPRT protein tyrosine phosphatase, receptor type, T 0.681679
WDR63 WD repeat domain 63 0.672779
CEP135 centrosomal protein 135kDa 0.672779
COL5A1 collagen, type V, alpha 1 0.669923
GRM7 glutamate receptor, metabotropic 7 0.669923
FAM134B family with sequence similarity 134, member B 0.664442
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 0.664442
PSORS1C2 psoriasis susceptibility 1 candidate 2 0.661809
CNTN1 contactin 1 0.656743
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.656743
PBX1 pre-B-cell leukemia homeobox 1 0.651923
CAMK4 calcium/calmodulin-dependent protein kinase IV 0.643667
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 0.635284
FMN1 formin 1 0.628991
SLIT3 slit homolog 3 (Drosophila) 0.628781
SNTG1 syntrophin, gamma 1 0.628781
VWA8 von Willebrand factor A domain containing 8 0.626701
RPTOR regulatory associated protein of MTOR, complex 1 0.626701
EGFR epidermal growth factor receptor 0.624663
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa 0.620705
EPHB1 EPH receptor B1 0.614969
ZNF622 zinc finger protein 622 0.611229
NOD1 nucleotide-binding oligomerization domain containing 1 0.609228
SGSM2 small G protein signaling modulator 2 0.60762
PCDH9 protocadherin 9 0.605862
ZBTB41 zinc finger and BTB domain containing 41 0.602436
ASIC2 acid sensing (proton gated) ion channel 2 0.602436
LTBP1 latent transforming growth factor beta binding protein 1 0.599122
PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 0.595915
CAMK1D calcium/calmodulin-dependent protein kinase ID 0.594349
GDNF glial cell derived neurotrophic factor 0.591289
FAM204A family with sequence similarity 204, member A 0.589794
KLHL29 kelch-like family member 29 0.589794
NID1 nidogen 1 0.588321
COL19A1 collagen, type XIX, alpha 1 0.577224
JAKMIP1 janus kinase and microtubule interacting protein 1 0.577224
ERC2 ELKS/RAB6-interacting/CAST family member 2 0.537098
LOC349160 uncharacterized LOC349160 0.531908
ALMS1 Alstrom syndrome protein 1 0.508699
SULF1 sulfatase 1 0.503277
NCKAP5 NCK-associated protein 5 0.47755
EDIL3 EGF-like repeats and discoidin I-like domains 3 0.475336
ADGRL3 adhesion G protein-coupled receptor L3 0.474617
ENOX1 ecto-NOX disulfide-thiol exchanger 1 0.464433
IL12RB2 interleukin 12 receptor, beta 2 0.463003
CNTN5 contactin 5 0.460735
CDH13 cadherin 13 0.46012
OTOGL otogelin-like 0.458315
NPAS3 neuronal PAS domain protein 3 0.445816
VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae) 0.442285
AAK1 AP2 associated kinase 1 0.438664
NRG3 neuregulin 3 0.433705
CCDC102B coiled-coil domain containing 102B 0.426872