age related macular degeneration Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
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/DOID:10871
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Genes

208 genes associated with the disease age related macular degeneration in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
CFH complement factor H 4.56214
ARMS2 age-related maculopathy susceptibility 2 4.56214
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 2.96514
CFHR4 complement factor H-related 4 2.81156
HTRA1 HtrA serine peptidase 1 2.66796
C3 complement component 3 2.45974
CFB complement factor B 2.28468
KCNT2 potassium channel, sodium activated subfamily T, member 2 2.19599
CFHR1 complement factor H-related 1 2.18979
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 2.10895
C2 complement component 2 2.10422
APOC1 apolipoprotein C-I 2.01898
CFHR5 complement factor H-related 5 1.90509
CETP cholesteryl ester transfer protein, plasma 1.84079
SYN3 synapsin III 1.82268
F13B coagulation factor XIII, B polypeptide 1.77978
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1.75776
ZBTB41 zinc finger and BTB domain containing 41 1.7251
COL8A1 collagen, type VIII, alpha 1 1.71314
CFHR3 complement factor H-related 3 1.6622
SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8 1.62029
NOTCH4 notch 4 1.62029
TGFBR1 transforming growth factor, beta receptor 1 1.60875
CFHR2 complement factor H-related 2 1.60791
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 1.60057
CCDC109B coiled-coil domain containing 109B 1.5865
RAD51B RAD51 paralog B 1.57873
NELFE negative elongation factor complex member E 1.55738
BTBD16 BTB (POZ) domain containing 16 1.52938
TNXB tenascin XB 1.50906
ADAMTS9-AS2 ADAMTS9 antisense RNA 2 1.45471
STK19 serine/threonine kinase 19 1.44164
REST RE1-silencing transcription factor 1.39396
COL10A1 collagen, type X, alpha 1 1.39396
B3GALTL beta 1,3-galactosyltransferase-like 1.39396
EGFL8 EGF-like-domain, multiple 8 1.39006
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 1.35759
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 1.35365
PLA2G12A phospholipase A2, group XIIA 1.32681
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 1.32598
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 1.30936
GPR152 G protein-coupled receptor 152 1.24183
MAP2 microtubule-associated protein 2 1.23448
ADD3 adducin 3 (gamma) 1.21798
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 1.19386
RREB1 ras responsive element binding protein 1 1.19386
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a 1.19313
LOC284395 uncharacterized LOC284395 1.19171
SCN4A sodium channel, voltage gated, type IV alpha subunit 1.18343
EHMT2 euchromatic histone-lysine N-methyltransferase 2 1.18062
LY6G6F lymphocyte antigen 6 complex, locus G6F 1.16047
PTGES3 prostaglandin E synthase 3 (cytosolic) 1.14463
CNKSR2 connector enhancer of kinase suppressor of Ras 2 1.1105
FBXO15 F-box protein 15 1.09959
SNTG1 syntrophin, gamma 1 1.09493
ANKRD45 ankyrin repeat domain 45 1.09493
TYR tyrosinase 1.07599
BTBD2 BTB (POZ) domain containing 2 1.06777
C6ORF48 chromosome 6 open reading frame 48 1.05828
DAZAP1 DAZ associated protein 1 1.05742
YY1AP1 YY1 associated protein 1 1.05742
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 1.05407
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 1.0538
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) 1.0538
CAPN7 calpain 7 1.05003
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1.04096
SET SET nuclear proto-oncogene 1.03835
MSN moesin 1.03835
METTL16 methyltransferase like 16 1.02362
RIMS3 regulating synaptic membrane exocytosis 3 1.01853
FRAT2 frequently rearranged in advanced T-cell lymphomas 2 1.0181
ELP2 elongator acetyltransferase complex subunit 2 1.01598
NFIB nuclear factor I/B 1.01556
FILIP1L filamin A interacting protein 1-like 1.00788
OSBPL6 oxysterol binding protein-like 6 1.00039
CLIC5 chloride intracellular channel 5 0.986376
SKA1 spindle and kinetochore associated complex subunit 1 0.980941
DOK5 docking protein 5 0.979704
GLI3 GLI family zinc finger 3 0.971169
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit 0.967203
SNORD48 small nucleolar RNA, C/D box 48 0.951514
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.951514
TOMM34 translocase of outer mitochondrial membrane 34 0.93103
GJA8 gap junction protein, alpha 8, 50kDa 0.930169
SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 0.928472
FSTL5 follistatin-like 5 0.927636
ARL15 ADP-ribosylation factor-like 15 0.925987
MYO16 myosin XVI 0.925987
MTA1 metastasis associated 1 0.92437
INHBC inhibin, beta C 0.921998
SLC9C2 solute carrier family 9, member C2 (putative) 0.921998
SCGB2A2 secretoglobin, family 2A, member 2 0.921998
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0.920453
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 0.918934
KLHL20 kelch-like family member 20 0.917442
AIP aryl hydrocarbon receptor interacting protein 0.917442
VAV2 vav 2 guanine nucleotide exchange factor 0.917442
C17ORF64 chromosome 17 open reading frame 64 0.917442
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.917442
MAP3K19 mitogen-activated protein kinase kinase kinase 19 0.917442
NAPEPLD N-acyl phosphatidylethanolamine phospholipase D 0.915976
SAPCD1 suppressor APC domain containing 1 0.912987
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 0.912987
NAA30 N(alpha)-acetyltransferase 30, NatC catalytic subunit 0.90636
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 0.903565
CNTNAP4 contactin associated protein-like 4 0.898875
NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 0.88034
ADCY2 adenylate cyclase 2 (brain) 0.876244
UNC13C unc-13 homolog C (C. elegans) 0.869084
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 0.865448
MSH5 mutS homolog 5 0.860976
TRMT13 tRNA methyltransferase 13 homolog (S. cerevisiae) 0.855302
LIPC lipase, hepatic 0.853292
ANTXR1 anthrax toxin receptor 1 0.852303
DCC DCC netrin 1 receptor 0.836877
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 0.822728
TNS1 tensin 1 0.808405
ANKRD16 ankyrin repeat domain 16 0.799893
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 0.797032
DAOA-AS1 DAOA antisense RNA 1 0.790203
RNF125 ring finger protein 125, E3 ubiquitin protein ligase 0.78442
CLUL1 clusterin-like 1 (retinal) 0.781342
AIF1 allograft inflammatory factor 1 0.778945
IGFBP7 insulin-like growth factor binding protein 7 0.776893
GRID2 glutamate receptor, ionotropic, delta 2 0.776026
KLF12 Kruppel-like factor 12 0.775739
YOD1 YOD1 deubiquitinase 0.775452
LY6G5C lymphocyte antigen 6 complex, locus G5C 0.77125
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.77043
RRP1 ribosomal RNA processing 1 0.770158
FSIP1 fibrous sheath interacting protein 1 0.764084
NKAIN3 Na+/K+ transporting ATPase interacting 3 0.762374
KIF21B kinesin family member 21B 0.760414
LOC389641 uncharacterized LOC389641 0.756867
PADI1 peptidyl arginine deiminase, type I 0.756331
MAP2K1 mitogen-activated protein kinase kinase 1 0.754478
POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 0.733341
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 0.732156
FAM155A family with sequence similarity 155, member A 0.726189
FAM177B family with sequence similarity 177, member B 0.723107
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 0.717191
RMDN2 regulator of microtubule dynamics 2 0.711195
CSMD1 CUB and Sushi multiple domains 1 0.710807
OR1Q1 olfactory receptor, family 1, subfamily Q, member 1 0.707753
AKAP12 A kinase (PRKA) anchor protein 12 0.70297
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 0.701191
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.699101
PARK2 parkin RBR E3 ubiquitin protein ligase 0.695875
NCAM2 neural cell adhesion molecule 2 0.694217
AOAH acyloxyacyl hydrolase (neutrophil) 0.688615
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.683452
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.682568
PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 0.679391
DXO decapping exoribonuclease 0.67728
DIS3L DIS3 like exosome 3'-5' exoribonuclease 0.673859
TEX9 testis expressed 9 0.670943
AKAP13 A kinase (PRKA) anchor protein 13 0.669544
TCF7 transcription factor 7 (T-cell specific, HMG-box) 0.662072
OPCML opioid binding protein/cell adhesion molecule-like 0.654978
GFOD1 glucose-fructose oxidoreductase domain containing 1 0.650844
MCC mutated in colorectal cancers 0.648464
TNIP2 TNFAIP3 interacting protein 2 0.638972
WDPCP WD repeat containing planar cell polarity effector 0.638972
KIAA1549L KIAA1549-like 0.637483
ACPP acid phosphatase, prostate 0.636511
LARGE like-glycosyltransferase 0.630132
LAMP5 lysosomal-associated membrane protein family, member 5 0.628481
PADI4 peptidyl arginine deiminase, type IV 0.628481
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.626482
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 0.625701
PROM1 prominin 1 0.62455
ZW10 zw10 kinetochore protein 0.624172
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.620165
MBTPS1 membrane-bound transcription factor peptidase, site 1 0.619466
RYBP RING1 and YY1 binding protein 0.616096
GRAMD3 GRAM domain containing 3 0.613378
TSPEAR thrombospondin-type laminin G domain and EAR repeats 0.613378
ETV6 ets variant 6 0.613036
USP28 ubiquitin specific peptidase 28 0.611686
ADAM12 ADAM metallopeptidase domain 12 0.609075
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 0.608756
NXN nucleoredoxin 0.602145
PTPRT protein tyrosine phosphatase, receptor type, T 0.598248
VIT vitrin 0.596242
LRRK1 leucine-rich repeat kinase 1 0.593212
KCNIP1 Kv channel interacting protein 1 0.590838
SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 0.589811
TNR tenascin R 0.589304
FAM193A family with sequence similarity 193, member A 0.587561
DCDC2 doublecortin domain containing 2 0.583062
ANKRD12 ankyrin repeat domain 12 0.57981
ETV1 ets variant 1 0.578411
PRELID2 PRELI domain containing 2 0.572673
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 0.572673
TACC2 transforming, acidic coiled-coil containing protein 2 0.572462
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 0.569782
PAPPA2 pappalysin 2 0.568979
LOC100288798 uncharacterized LOC100288798 0.568383
ATXN1 ataxin 1 0.548317
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5 0.540011
ZNF516 zinc finger protein 516 0.538685
RIN3 Ras and Rab interactor 3 0.537959
SV2C synaptic vesicle glycoprotein 2C 0.536247
FAM171A1 family with sequence similarity 171, member A1 0.501829
KDM4B lysine (K)-specific demethylase 4B 0.498853
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 0.498668
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6 0.498302
FER1L6-AS1 FER1L6 antisense RNA 1 0.496919