Macular Degeneration Gene Set

Dataset dbGAP Gene-Trait Associations
Category disease or phenotype associations
Type trait
Description A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. (Human Disease Ontology, DOID_4448)
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Genes

118 genes associated with the trait Macular Degeneration in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Symbol Name Standardized Value
ARMS2 age-related maculopathy susceptibility 2 3.12841
CFH complement factor H 2.87544
CFHR4 complement factor H-related 4 2.05754
HTRA1 HtrA serine peptidase 1 1.99568
CFB complement factor B 1.69288
C3 complement component 3 1.6648
KCNT2 potassium channel, sodium activated subfamily T, member 2 1.60654
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 1.51361
C2 complement component 2 1.50783
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 1.48334
NELFE negative elongation factor complex member E 1.35606
CFHR5 complement factor H-related 5 1.29601
SYN3 synapsin III 1.21571
F13B coagulation factor XIII, B polypeptide 1.17017
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1.14893
ZBTB41 zinc finger and BTB domain containing 41 1.11294
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a 1.07287
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 0.971574
BTBD16 BTB (POZ) domain containing 16 0.887181
STK19 serine/threonine kinase 19 0.781403
DXO decapping exoribonuclease 0.781403
TNXB tenascin XB 0.773832
REST RE1-silencing transcription factor 0.731179
EGFL8 EGF-like-domain, multiple 8 0.727435
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 0.696122
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 0.696122
PLA2G12A phospholipase A2, group XIIA 0.661372
NOTCH4 notch 4 0.653417
GPR152 G protein-coupled receptor 152 0.551962
MAP2 microtubule-associated protein 2 0.5435
APOF apolipoprotein F 0.542724
STAT2 signal transducer and activator of transcription 2, 113kDa 0.542724
ADD3 adducin 3 (gamma) 0.525878
RREB1 ras responsive element binding protein 1 0.50084
SCN4A sodium channel, voltage gated, type IV alpha subunit 0.489039
EHMT2 euchromatic histone-lysine N-methyltransferase 2 0.485755
LY6G6F lymphocyte antigen 6 complex, locus G6F 0.461565
PTGES3 prostaglandin E synthase 3 (cytosolic) 0.443956
CFHR2 complement factor H-related 2 0.423544
CNKSR2 connector enhancer of kinase suppressor of Ras 2 0.409385
COL8A1 collagen, type VIII, alpha 1 0.406869
FBXO15 F-box protein 15 0.399364
SNTG1 syntrophin, gamma 1 0.395309
ANKRD45 ankyrin repeat domain 45 0.395309
BTBD2 BTB (POZ) domain containing 2 0.372074
C6ORF48 chromosome 6 open reading frame 48 0.364241
YY1AP1 YY1 associated protein 1 0.363539
SCGB1D1 secretoglobin, family 1D, member 1 0.363539
DAZAP1 DAZ associated protein 1 0.363539
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 0.360964
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.360704
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) 0.360704
EHMT1 euchromatic histone-lysine N-methyltransferase 1 0.360704
CTRB1 chymotrypsinogen B1 0.36028
CTRB2 chymotrypsinogen B2 0.36028
CAPN7 calpain 7 0.357904
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.350882
MSN moesin 0.348793
SET SET nuclear proto-oncogene 0.348793
METTL16 methyltransferase like 16 0.337792
RIMS3 regulating synaptic membrane exocytosis 3 0.334132
FRAT2 frequently rearranged in advanced T-cell lymphomas 2 0.333865
NFIB nuclear factor I/B 0.331933
DOK5 docking protein 5 0.306056
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit 0.297022
TOMM34 translocase of outer mitochondrial membrane 34 0.269537
GJA8 gap junction protein, alpha 8, 50kDa 0.2686
ARL15 ADP-ribosylation factor-like 15 0.26573
MYO16 myosin XVI 0.265691
RNF112 ring finger protein 112 0.264526
MTA1 metastasis associated 1 0.264027
PLEKHB1 pleckstrin homology domain containing, family B (evectins) member 1 0.262238
INHBC inhibin, beta C 0.262238
SLC9C2 solute carrier family 9, member C2 (putative) 0.262238
SCGB2A2 secretoglobin, family 2A, member 2 0.262238
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0.260998
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 0.259839
VAV2 vav 2 guanine nucleotide exchange factor 0.258751
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.258751
MAP3K19 mitogen-activated protein kinase kinase kinase 19 0.258751
C17ORF64 chromosome 17 open reading frame 64 0.258751
KLHL20 kelch-like family member 20 0.258751
AIP aryl hydrocarbon receptor interacting protein 0.258751
NAPEPLD N-acyl phosphatidylethanolamine phospholipase D 0.257307
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 0.255378
SAPCD1 suppressor APC domain containing 1 0.255209
NAA30 N(alpha)-acetyltransferase 30, NatC catalytic subunit 0.250162
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 0.248084
MSH5 mutS homolog 5 0.214201
TRMT13 tRNA methyltransferase 13 homolog (S. cerevisiae) 0.209578
LIPC lipase, hepatic 0.208344
ANTXR1 anthrax toxin receptor 1 0.207385
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 0.183325
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 0.182198
RNF125 ring finger protein 125, E3 ubiquitin protein ligase 0.148192
AIF1 allograft inflammatory factor 1 0.143243
KLF12 Kruppel-like factor 12 0.140247
YOD1 YOD1 deubiquitinase 0.139956
LY6G5C lymphocyte antigen 6 complex, locus G5C 0.136064
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.135431
KIF21B kinesin family member 21B 0.126967
PADI1 peptidyl arginine deiminase, type I 0.12341
SNAPC5 small nuclear RNA activating complex, polypeptide 5, 19kDa 0.121888
MAP2K1 mitogen-activated protein kinase kinase 1 0.121888
MROH3P maestro heat-like repeat family member 3, pseudogene 0.098743
FAM177B family with sequence similarity 177, member B 0.095927
B3GALTL beta 1,3-galactosyltransferase-like 0.092369
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 0.091404
RMDN2 regulator of microtubule dynamics 2 0.087019
CSMD1 CUB and Sushi multiple domains 1 0.086841
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.078121
NCAM2 neural cell adhesion molecule 2 0.074597
DCC DCC netrin 1 receptor 0.072605
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.066943
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 0.066381
TIMM21 translocase of inner mitochondrial membrane 21 homolog (yeast) 0.066054
PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 0.064451
DIS3L DIS3 like exosome 3'-5' exoribonuclease 0.061031