retinopathy Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. (Human Phenotype Ontology, HP_0000488)
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