retinal degeneration Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:8466
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Genes

315 genes associated with the disease retinal degeneration in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
ARMS2 age-related maculopathy susceptibility 2 2.86126
CFH complement factor H 2.86126
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 2.08704
CFHR4 complement factor H-related 4 1.96361
HTRA1 HtrA serine peptidase 1 1.82781
C3 complement component 3 1.59288
CFB complement factor B 1.37714
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 1.32661
LOXL1 lysyl oxidase-like 1 1.3035
KCNT2 potassium channel, sodium activated subfamily T, member 2 1.27692
CFHR1 complement factor H-related 1 1.26837
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 1.14708
C2 complement component 2 1.14008
APOC1 apolipoprotein C-I 0.938312
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.835303
CDKN2B-AS1 CDKN2B antisense RNA 1 0.802597
CFHR5 complement factor H-related 5 0.713132
RERE arginine-glutamic acid dipeptide (RE) repeats 0.659953
CETP cholesteryl ester transfer protein, plasma 0.62862
ATOH7 atonal homolog 7 (Drosophila) 0.611196
SYN3 synapsin III 0.611196
F13B coagulation factor XIII, B polypeptide 0.57408
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 0.553841
ZBTB41 zinc finger and BTB domain containing 41 0.523461
COL11A1 collagen, type XI, alpha 1 0.518079
COL8A1 collagen, type VIII, alpha 1 0.510514
NEDD9 neural precursor cell expressed, developmentally down-regulated 9 0.498571
CFHR3 complement factor H-related 3 0.484681
PLEKHA7 pleckstrin homology domain containing, family A member 7 0.483661
SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8 0.477616
NOTCH4 notch 4 0.477616
TGFBR1 transforming growth factor, beta receptor 1 0.475708
CFHR2 complement factor H-related 2 0.475553
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 0.474118
CCDC109B coiled-coil domain containing 109B 0.47165
RAD51B RAD51 paralog B 0.470414
NELFE negative elongation factor complex member E 0.466435
BTBD16 BTB (POZ) domain containing 16 0.461308
LOC100506532 uncharacterized LOC100506532 0.458831
TNXB tenascin XB 0.457406
CAV2 caveolin 2 0.456715
COL5A1 collagen, type V, alpha 1 0.454474
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 0.453941
COL8A2 collagen, type VIII, alpha 2 0.451529
SRBD1 S1 RNA binding domain 1 0.449115
ADAMTS9-AS2 ADAMTS9 antisense RNA 2 0.444689
ADPRHL2 ADP-ribosylhydrolase like 2 0.443206
CSMD1 CUB and Sushi multiple domains 1 0.442172
STK19 serine/threonine kinase 19 0.441787
CHEK2 checkpoint kinase 2 0.438494
GAS7 growth arrest-specific 7 0.438494
DCLK1 doublecortin-like kinase 1 0.438494
REST RE1-silencing transcription factor 0.432325
TMCO1 transmembrane and coiled-coil domains 1 0.432325
COL10A1 collagen, type X, alpha 1 0.432325
B3GALTL beta 1,3-galactosyltransferase-like 0.432325
EGFL8 EGF-like-domain, multiple 8 0.431653
ADAMTSL1 ADAMTS-like 1 0.431493
BCAS3 breast carcinoma amplified sequence 3 0.428796
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 0.426174
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 0.425451
ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 0.424821
PLA2G12A phospholipase A2, group XIIA 0.420114
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 0.419941
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.416075
FNDC3B fibronectin type III domain containing 3B 0.414493
SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 0.412937
DCLK3 doublecortin-like kinase 3 0.412155
TXNRD2 thioredoxin reductase 2 0.410854
RFTN1 raftlin, lipid raft linker 1 0.410854
MYPN myopalladin 0.410854
FAT3 FAT atypical cadherin 3 0.409006
AKAP6 A kinase (PRKA) anchor protein 6 0.408797
LRP1B low density lipoprotein receptor-related protein 1B 0.406567
ARID3A AT rich interactive domain 3A (BRIGHT-like) 0.406567
IDO2 indoleamine 2,3-dioxygenase 2 0.404127
FAM53B family with sequence similarity 53, member B 0.401609
GPR152 G protein-coupled receptor 152 0.400626
MAP2 microtubule-associated protein 2 0.399265
TRAPPC3 trafficking protein particle complex 3 0.397328
CADPS Ca++-dependent secretion activator 0.396836
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 0.396759
ADD3 adducin 3 (gamma) 0.396401
FAM175B family with sequence similarity 175, member B 0.395486
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 0.392011
RREB1 ras responsive element binding protein 1 0.392011
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a 0.39188
LOC284395 uncharacterized LOC284395 0.39162
PRKCH protein kinase C, eta 0.390751
SCN4A sodium channel, voltage gated, type IV alpha subunit 0.390051
EHMT2 euchromatic histone-lysine N-methyltransferase 2 0.389495
LINC00290 long intergenic non-protein coding RNA 290 0.388552
LY6G6F lymphocyte antigen 6 complex, locus G6F 0.38559
ZNF827 zinc finger protein 827 0.383723
ITPKB inositol-trisphosphate 3-kinase B 0.383267
SLC30A8 solute carrier family 30 (zinc transporter), member 8 0.382752
PDE7B phosphodiesterase 7B 0.382752
SCFD2 sec1 family domain containing 2 0.382752
PTGES3 prostaglandin E synthase 3 (cytosolic) 0.382752
CDKN2A cyclin-dependent kinase inhibitor 2A 0.380991
LOC643339 uncharacterized LOC643339 0.379542
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0.379542
LRRC4C leucine rich repeat containing 4C 0.378816
CSF1R colony stimulating factor 1 receptor 0.378441
SIX6 SIX homeobox 6 0.378231
PTPRD protein tyrosine phosphatase, receptor type, D 0.377519
CNKSR2 connector enhancer of kinase suppressor of Ras 2 0.377322
BMPR1A bone morphogenetic protein receptor, type IA 0.376937
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 0.376937
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 0.375975
FBXO15 F-box protein 15 0.375842
PDE4D phosphodiesterase 4D, cAMP-specific 0.375755
SNTG1 syntrophin, gamma 1 0.3752
ANKRD45 ankyrin repeat domain 45 0.3752
TSHR thyroid stimulating hormone receptor 0.372858
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.372858
DENND2A DENN/MADD domain containing 2A 0.372858
TYR tyrosinase 0.372858
RGS6 regulator of G-protein signaling 6 0.372272
BTBD2 BTB (POZ) domain containing 2 0.371872
PLB1 phospholipase B1 0.371839
C6ORF48 chromosome 6 open reading frame 48 0.370758
CPB1 carboxypeptidase B1 (tissue) 0.370662
YY1AP1 YY1 associated protein 1 0.370662
DAZAP1 DAZ associated protein 1 0.370662
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 0.370287
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) 0.370256
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.370256
CAPN7 calpain 7 0.369832
FOXP1 forkhead box P1 0.369654
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.368795
SET SET nuclear proto-oncogene 0.368492
MSN moesin 0.368492
UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 0.368196
RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 0.367194
METTL16 methyltransferase like 16 0.36685
RIMS3 regulating synaptic membrane exocytosis 3 0.366304
FRAT2 frequently rearranged in advanced T-cell lymphomas 2 0.366257
SDK1 sidekick cell adhesion molecule 1 0.366257
ELP2 elongator acetyltransferase complex subunit 2 0.366027
NFIB nuclear factor I/B 0.365981
FILIP1L filamin A interacting protein 1-like 0.365141
PEX14 peroxisomal biogenesis factor 14 0.364717
ESRRG estrogen-related receptor gamma 0.364717
OSBPL6 oxysterol binding protein-like 6 0.364307
LOC100147773 uncharacterized LOC100147773 0.363908
CLIC5 chloride intracellular channel 5 0.362774
SKA1 spindle and kinetochore associated complex subunit 1 0.36217
DOK5 docking protein 5 0.362031
ANKRD44 ankyrin repeat domain 44 0.361792
PIAS2 protein inhibitor of activated STAT, 2 0.361725
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 0.361326
GLI3 GLI family zinc finger 3 0.361067
MYH9 myosin, heavy chain 9, non-muscle 0.361067
SATB1 SATB homeobox 1 0.360749
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit 0.360608
FOCAD focadhesin 0.35956
AFAP1 actin filament associated protein 1 0.359545
SNORD48 small nucleolar RNA, C/D box 48 0.358706
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.358706
TOMM34 translocase of outer mitochondrial membrane 34 0.355986
GJA8 gap junction protein, alpha 8, 50kDa 0.355861
SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 0.355613
FSTL5 follistatin-like 5 0.355491
ARL15 ADP-ribosylation factor-like 15 0.355249
MYO16 myosin XVI 0.355249
MTA1 metastasis associated 1 0.355011
SLC9C2 solute carrier family 9, member C2 (putative) 0.354661
SCGB2A2 secretoglobin, family 2A, member 2 0.354661
INHBC inhibin, beta C 0.354661
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0.354432
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 0.354206
VAV2 vav 2 guanine nucleotide exchange factor 0.353983
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.353983
C17ORF64 chromosome 17 open reading frame 64 0.353983
MAP3K19 mitogen-activated protein kinase kinase kinase 19 0.353983
KLHL20 kelch-like family member 20 0.353983
AIP aryl hydrocarbon receptor interacting protein 0.353983
NAPEPLD N-acyl phosphatidylethanolamine phospholipase D 0.353764
SAPCD1 suppressor APC domain containing 1 0.353334
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 0.353334
NAA30 N(alpha)-acetyltransferase 30, NatC catalytic subunit 0.35241
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 0.352016
CNTNAP4 contactin associated protein-like 4 0.351351
RCAN2 regulator of calcineurin 2 0.349595
NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 0.348788
ADCY2 adenylate cyclase 2 (brain) 0.348248
WDR82 WD repeat domain 82 0.348172
UNC13C unc-13 homolog C (C. elegans) 0.347293
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 0.346802
MSH5 mutS homolog 5 0.346194
FAM169B family with sequence similarity 169, member B 0.345546
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 0.345546
TRMT13 tRNA methyltransferase 13 homolog (S. cerevisiae) 0.345483
LIPC lipase, hepatic 0.345232
ANTXR1 anthrax toxin receptor 1 0.345109
DSTYK dual serine/threonine and tyrosine protein kinase 0.344212
DCC DCC netrin 1 receptor 0.343148
CRMP1 collapsin response mediator protein 1 0.342192
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 0.341259
TNS1 tensin 1 0.339226
RPSAP52 ribosomal protein SA pseudogene 52 0.338926
ANKRD16 ankyrin repeat domain 16 0.338008
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 0.337635
PPFIBP2 PTPRF interacting protein, binding protein 2 (liprin beta 2) 0.337002
DAOA-AS1 DAOA antisense RNA 1 0.336737
NPAS3 neuronal PAS domain protein 3 0.336391
RNF125 ring finger protein 125, E3 ubiquitin protein ligase 0.335967
CLUL1 clusterin-like 1 (retinal) 0.335554
AIF1 allograft inflammatory factor 1 0.33523
PARD3B par-3 family cell polarity regulator beta 0.33515
IGFBP7 insulin-like growth factor binding protein 7 0.334951
GRID2 glutamate receptor, ionotropic, delta 2 0.334833
KLF12 Kruppel-like factor 12 0.334794
YOD1 YOD1 deubiquitinase 0.334755
LY6G5C lymphocyte antigen 6 complex, locus G5C 0.33418
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.334067
RRP1 ribosomal RNA processing 1 0.33403
FSIP1 fibrous sheath interacting protein 1 0.333262
NKAIN3 Na+/K+ transporting ATPase interacting 3 0.333048
MTAP methylthioadenosine phosphorylase 0.332978
KIF21B kinesin family member 21B 0.332803
LOC389641 uncharacterized LOC389641 0.332356
PADI1 peptidyl arginine deiminase, type I 0.332288
MAP2K1 mitogen-activated protein kinase kinase 1 0.332053
ZDHHC2 zinc finger, DHHC-type containing 2 0.331367
MAML2 mastermind-like 2 (Drosophila) 0.330103
POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 0.329346
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 0.329205
SOD2 superoxide dismutase 2, mitochondrial 0.328814
FAM155A family with sequence similarity 155, member A 0.328487
FAM177B family with sequence similarity 177, member B 0.328112
BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 0.32785
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 0.327387
NWD2 NACHT and WD repeat domain containing 2 0.327337
TMTC2 transmembrane and tetratricopeptide repeat containing 2 0.327286
RMDN2 regulator of microtubule dynamics 2 0.326644
OR1Q1 olfactory receptor, family 1, subfamily Q, member 1 0.326212
AKAP12 A kinase (PRKA) anchor protein 12 0.325609
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 0.325382
CDH13 cadherin 13 0.325312
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.325077
LOC729911 0.324871
BBS9 Bardet-Biedl syndrome 9 0.324693
PARK2 parkin RBR E3 ubiquitin protein ligase 0.324591
NCAM2 neural cell adhesion molecule 2 0.32434
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.323969
PXDNL peroxidasin-like 0.323896
AOAH acyloxyacyl hydrolase (neutrophil) 0.323486
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.32269
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.322553
PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 0.322058
DXO decapping exoribonuclease 0.321728
DIS3L DIS3 like exosome 3'-5' exoribonuclease 0.32119
TEX9 testis expressed 9 0.320729
AKAP13 A kinase (PRKA) anchor protein 13 0.320461
TCF7 transcription factor 7 (T-cell specific, HMG-box) 0.318947
OPCML opioid binding protein/cell adhesion molecule-like 0.317491
GFOD1 glucose-fructose oxidoreductase domain containing 1 0.316634
MCC mutated in colorectal cancers 0.316137
TNIP2 TNFAIP3 interacting protein 2 0.313543
WDPCP WD repeat containing planar cell polarity effector 0.313543
KIAA1549L KIAA1549-like 0.313119
ACPP acid phosphatase, prostate 0.312842
LARGE like-glycosyltransferase 0.311007
PADI4 peptidyl arginine deiminase, type IV 0.310514
LAMP5 lysosomal-associated membrane protein family, member 5 0.310514
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.309915
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.309797
PROM1 prominin 1 0.309334
ZW10 zw10 kinetochore protein 0.30922
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.308009
MBTPS1 membrane-bound transcription factor peptidase, site 1 0.307797
RYBP RING1 and YY1 binding protein 0.306771
ZSWIM3 zinc finger, SWIM-type containing 3 0.306473
CNTNAP2 contactin associated protein-like 2 0.306473
GRAMD3 GRAM domain containing 3 0.305916
TSPEAR thrombospondin-type laminin G domain and EAR repeats 0.305916
ETV6 ets variant 6 0.305799
USP28 ubiquitin specific peptidase 28 0.305338
ADAM12 ADAM metallopeptidase domain 12 0.304444
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 0.304334
NXN nucleoredoxin 0.302052
PTPRT protein tyrosine phosphatase, receptor type, T 0.300712
VIT vitrin 0.30007
LRRK1 leucine-rich repeat kinase 1 0.299098
KCNIP1 Kv channel interacting protein 1 0.298332
SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 0.298
TNR tenascin R 0.297836
EBF4 early B-cell factor 4 0.297673
FAM193A family with sequence similarity 193, member A 0.297271
DNTTIP1 deoxynucleotidyltransferase, terminal, interacting protein 1 0.296106
DCDC2 doublecortin domain containing 2 0.295806
GFAP glial fibrillary acidic protein 0.295806
ANKRD12 ankyrin repeat domain 12 0.294785
ETV1 ets variant 1 0.294361
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.292613
PRELID2 PRELI domain containing 2 0.292613
TACC2 transforming, acidic coiled-coil containing protein 2 0.292549
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 0.291727
PAPPA2 pappalysin 2 0.29148
LOC100288798 uncharacterized LOC100288798 0.291296
ATP8B5P ATPase, class I, type 8B, member 5, pseudogene 0.287148
ATXN1 ataxin 1 0.285359
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5 0.282718
ZNF516 zinc finger protein 516 0.282261
RIN3 Ras and Rab interactor 3 0.28201
SV2C synaptic vesicle glycoprotein 2C 0.281419
AP1S3 adaptor-related protein complex 1, sigma 3 subunit 0.277912
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.274595
FAM171A1 family with sequence similarity 171, member A1 0.268689
KDM4B lysine (K)-specific demethylase 4B 0.267325
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 0.267241
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6 0.267072
FER1L6-AS1 FER1L6 antisense RNA 1 0.266437