age-related macular degeneration Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. (Human Disease Ontology, DOID_10871)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0007868
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Genes

208 genes associated with the age-related macular degeneration phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
CFH complement factor H 4.73758
ARMS2 age-related maculopathy susceptibility 2 4.73758
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 2.93282
CFHR4 complement factor H-related 4 2.81869
HTRA1 HtrA serine peptidase 1 2.65548
C3 complement component 3 2.47044
CFB complement factor B 2.23385
KCNT2 potassium channel, sodium activated subfamily T, member 2 2.14243
CFHR1 complement factor H-related 1 2.13656
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 2.07245
C2 complement component 2 2.06978
APOC1 apolipoprotein C-I 1.97023
CFHR5 complement factor H-related 5 1.84376
CETP cholesteryl ester transfer protein, plasma 1.75646
SYN3 synapsin III 1.74205
F13B coagulation factor XIII, B polypeptide 1.67512
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1.65305
ZBTB41 zinc finger and BTB domain containing 41 1.61524
COL8A1 collagen, type VIII, alpha 1 1.59332
CFHR3 complement factor H-related 3 1.53327
SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8 1.48419
NOTCH4 notch 4 1.48419
TGFBR1 transforming growth factor, beta receptor 1 1.47083
CFHR2 complement factor H-related 2 1.4699
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 1.46143
CCDC109B coiled-coil domain containing 109B 1.44665
RAD51B RAD51 paralog B 1.43975
NELFE negative elongation factor complex member E 1.41863
BTBD16 BTB (POZ) domain containing 16 1.37844
TNXB tenascin XB 1.35521
ADAMTS9-AS2 ADAMTS9 antisense RNA 2 1.28282
STK19 serine/threonine kinase 19 1.26583
REST RE1-silencing transcription factor 1.21853
COL10A1 collagen, type X, alpha 1 1.21853
B3GALTL beta 1,3-galactosyltransferase-like 1.21853
EGFL8 EGF-like-domain, multiple 8 1.21502
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 1.18643
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 1.18324
PLA2G12A phospholipase A2, group XIIA 1.16247
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 1.16177
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 1.14684
GPR152 G protein-coupled receptor 152 1.08762
MAP2 microtubule-associated protein 2 1.08081
ADD3 adducin 3 (gamma) 1.06567
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 1.04365
RREB1 ras responsive element binding protein 1 1.04365
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a 1.04301
LOC284395 uncharacterized LOC284395 1.04177
SCN4A sodium channel, voltage gated, type IV alpha subunit 1.03428
EHMT2 euchromatic histone-lysine N-methyltransferase 2 1.03165
LY6G6F lymphocyte antigen 6 complex, locus G6F 1.01377
PTGES3 prostaglandin E synthase 3 (cytosolic) 1.00059
CNKSR2 connector enhancer of kinase suppressor of Ras 2 0.971375
FBXO15 F-box protein 15 0.962749
SNTG1 syntrophin, gamma 1 0.958379
ANKRD45 ankyrin repeat domain 45 0.958379
TYR tyrosinase 0.942765
BTBD2 BTB (POZ) domain containing 2 0.935608
C6ORF48 chromosome 6 open reading frame 48 0.927411
DAZAP1 DAZ associated protein 1 0.926745
YY1AP1 YY1 associated protein 1 0.926745
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 0.92413
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.923916
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) 0.923916
CAPN7 calpain 7 0.920973
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.913571
SET SET nuclear proto-oncogene 0.911279
MSN moesin 0.911279
METTL16 methyltransferase like 16 0.899013
RIMS3 regulating synaptic membrane exocytosis 3 0.894996
FRAT2 frequently rearranged in advanced T-cell lymphomas 2 0.894655
ELP2 elongator acetyltransferase complex subunit 2 0.892972
NFIB nuclear factor I/B 0.892639
FILIP1L filamin A interacting protein 1-like 0.886251
OSBPL6 oxysterol binding protein-like 6 0.879831
CLIC5 chloride intracellular channel 5 0.868241
SKA1 spindle and kinetochore associated complex subunit 1 0.863735
DOK5 docking protein 5 0.862688
GLI3 GLI family zinc finger 3 0.855449
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit 0.852045
SNORD48 small nucleolar RNA, C/D box 48 0.838165
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.838165
TOMM34 translocase of outer mitochondrial membrane 34 0.819829
GJA8 gap junction protein, alpha 8, 50kDa 0.81905
SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 0.817516
FSTL5 follistatin-like 5 0.816759
ARL15 ADP-ribosylation factor-like 15 0.815267
MYO16 myosin XVI 0.815267
MTA1 metastasis associated 1 0.813733
INHBC inhibin, beta C 0.811465
SLC9C2 solute carrier family 9, member C2 (putative) 0.811465
SCGB2A2 secretoglobin, family 2A, member 2 0.811465
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0.809986
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 0.808534
KLHL20 kelch-like family member 20 0.807106
AIP aryl hydrocarbon receptor interacting protein 0.807106
VAV2 vav 2 guanine nucleotide exchange factor 0.807106
C17ORF64 chromosome 17 open reading frame 64 0.807106
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.807106
MAP3K19 mitogen-activated protein kinase kinase kinase 19 0.807106
NAPEPLD N-acyl phosphatidylethanolamine phospholipase D 0.805703
SAPCD1 suppressor APC domain containing 1 0.802966
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 0.802966
NAA30 N(alpha)-acetyltransferase 30, NatC catalytic subunit 0.797124
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 0.794657
CNTNAP4 contactin associated protein-like 4 0.790435
NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 0.772842
ADCY2 adenylate cyclase 2 (brain) 0.769207
UNC13C unc-13 homolog C (C. elegans) 0.762459
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 0.758788
MSH5 mutS homolog 5 0.754273
TRMT13 tRNA methyltransferase 13 homolog (S. cerevisiae) 0.749042
LIPC lipase, hepatic 0.747212
ANTXR1 anthrax toxin receptor 1 0.746311
DCC DCC netrin 1 receptor 0.731489
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 0.717942
TNS1 tensin 1 0.704251
ANKRD16 ankyrin repeat domain 16 0.695693
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 0.693105
DAOA-AS1 DAOA antisense RNA 1 0.686922
RNF125 ring finger protein 125, E3 ubiquitin protein ligase 0.681679
CLUL1 clusterin-like 1 (retinal) 0.678743
AIF1 allograft inflammatory factor 1 0.676316
IGFBP7 insulin-like growth factor binding protein 7 0.674238
GRID2 glutamate receptor, ionotropic, delta 2 0.67336
KLF12 Kruppel-like factor 12 0.67307
YOD1 YOD1 deubiquitinase 0.672779
LY6G5C lymphocyte antigen 6 complex, locus G5C 0.668525
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.667695
RRP1 ribosomal RNA processing 1 0.66742
FSIP1 fibrous sheath interacting protein 1 0.661809
NKAIN3 Na+/K+ transporting ATPase interacting 3 0.660262
KIF21B kinesin family member 21B 0.658487
LOC389641 uncharacterized LOC389641 0.655272
PADI1 peptidyl arginine deiminase, type I 0.654787
MAP2K1 mitogen-activated protein kinase kinase 1 0.653106
POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 0.632416
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 0.631333
FAM155A family with sequence similarity 155, member A 0.625881
FAM177B family with sequence similarity 177, member B 0.623061
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 0.617647
RMDN2 regulator of microtubule dynamics 2 0.611966
CSMD1 CUB and Sushi multiple domains 1 0.611597
OR1Q1 olfactory receptor, family 1, subfamily Q, member 1 0.608689
AKAP12 A kinase (PRKA) anchor protein 12 0.604135
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 0.602436
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.600435
PARK2 parkin RBR E3 ubiquitin protein ligase 0.597345
NCAM2 neural cell adhesion molecule 2 0.595757
AOAH acyloxyacyl hydrolase (neutrophil) 0.590389
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.585507
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.584766
PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 0.582099
DXO decapping exoribonuclease 0.580327
DIS3L DIS3 like exosome 3'-5' exoribonuclease 0.57745
TEX9 testis expressed 9 0.574995
AKAP13 A kinase (PRKA) anchor protein 13 0.573577
TCF7 transcription factor 7 (T-cell specific, HMG-box) 0.565624
OPCML opioid binding protein/cell adhesion molecule-like 0.558686
GFOD1 glucose-fructose oxidoreductase domain containing 1 0.55536
MCC mutated in colorectal cancers 0.553442
TNIP2 TNFAIP3 interacting protein 2 0.543523
WDPCP WD repeat containing planar cell polarity effector 0.543523
KIAA1549L KIAA1549-like 0.541991
ACPP acid phosphatase, prostate 0.541144
LARGE like-glycosyltransferase 0.535562
LAMP5 lysosomal-associated membrane protein family, member 5 0.53407
PADI4 peptidyl arginine deiminase, type IV 0.53407
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.532262
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 0.531556
PROM1 prominin 1 0.530515
ZW10 zw10 kinetochore protein 0.530172
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.526585
MBTPS1 membrane-bound transcription factor peptidase, site 1 0.525969
RYBP RING1 and YY1 binding protein 0.522995
GRAMD3 GRAM domain containing 3 0.520736
TSPEAR thrombospondin-type laminin G domain and EAR repeats 0.520736
ETV6 ets variant 6 0.520461
USP28 ubiquitin specific peptidase 28 0.519375
ADAM12 ADAM metallopeptidase domain 12 0.517271
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 0.517014
NXN nucleoredoxin 0.511522
PTPRT protein tyrosine phosphatase, receptor type, T 0.508244
VIT vitrin 0.50668
LRRK1 leucine-rich repeat kinase 1 0.504316
KCNIP1 Kv channel interacting protein 1 0.502461
SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 0.501658
TNR tenascin R 0.501261
FAM193A family with sequence similarity 193, member A 0.499816
DCDC2 doublecortin domain containing 2 0.496025
ANKRD12 ankyrin repeat domain 12 0.493395
ETV1 ets variant 1 0.492307
PRELID2 PRELI domain containing 2 0.487836
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.487836
TACC2 transforming, acidic coiled-coil containing protein 2 0.487671
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 0.485465
PAPPA2 pappalysin 2 0.484775
LOC100288798 uncharacterized LOC100288798 0.484264
ATXN1 ataxin 1 0.467541
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5 0.460488
ZNF516 zinc finger protein 516 0.459391
RIN3 Ras and Rab interactor 3 0.458791
SV2C synaptic vesicle glycoprotein 2C 0.457374
FAM171A1 family with sequence similarity 171, member A1 0.428386
KDM4B lysine (K)-specific demethylase 4B 0.425783
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 0.425664
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6 0.425428
FER1L6-AS1 FER1L6 antisense RNA 1 0.424539