abnormality of the macula Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina. (Human Phenotype Ontology, HP_0001103)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0001103
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Genes

208 genes associated with the abnormality of the macula 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