macular degeneration Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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

216 genes associated with the disease macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACE angiotensin I converting enzyme
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
ADD3 adducin 3 (gamma)
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1
AHR aryl hydrocarbon receptor
AIF1 allograft inflammatory factor 1
AIP aryl hydrocarbon receptor interacting protein
AMD1 adenosylmethionine decarboxylase 1
ANKRD45 ankyrin repeat domain 45
ANTXR1 anthrax toxin receptor 1
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein
APOE apolipoprotein E
APOF apolipoprotein F
APP amyloid beta (A4) precursor protein
ARL15 ADP-ribosylation factor-like 15
ARMS2 age-related maculopathy susceptibility 2
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
B3GALTL beta 1,3-galactosyltransferase-like
BTBD16 BTB (POZ) domain containing 16
BTBD2 BTB (POZ) domain containing 2
C17ORF64 chromosome 17 open reading frame 64
C1QTNF1 C1q and tumor necrosis factor related protein 1
C1QTNF5 C1q and tumor necrosis factor related protein 5
C2 complement component 2
C3 complement component 3
C3AR1 complement component 3a receptor 1
C4BPA complement component 4 binding protein, alpha
C4BPB complement component 4 binding protein, beta
C5 complement component 5
C5AR1 complement component 5a receptor 1
C6 complement component 6
C6ORF48 chromosome 6 open reading frame 48
C7 complement component 7
C8A complement component 8, alpha polypeptide
C8B complement component 8, beta polypeptide
C9 complement component 9
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast)
CAPN7 calpain 7
CAT catalase
CC2D1A coiled-coil and C2 domain containing 1A
CCL2 chemokine (C-C motif) ligand 2
CCR2 chemokine (C-C motif) receptor 2
CD36 CD36 molecule (thrombospondin receptor)
CD46 CD46 molecule, complement regulatory protein
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD59 CD59 molecule, complement regulatory protein
CETP cholesteryl ester transfer protein, plasma
CFB complement factor B
CFH complement factor H
CFHR1 complement factor H-related 1
CFHR2 complement factor H-related 2
CFHR3 complement factor H-related 3
CFHR4 complement factor H-related 4
CFHR5 complement factor H-related 5
CFI complement factor I
CLU clusterin
CNKSR2 connector enhancer of kinase suppressor of Ras 2
COL8A1 collagen, type VIII, alpha 1
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRP C-reactive protein, pentraxin-related
CSMD1 CUB and Sushi multiple domains 1
CST3 cystatin C
CTRB1 chymotrypsinogen B1
CTRB2 chymotrypsinogen B2
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL8 chemokine (C-X-C motif) ligand 8
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DAZAP1 DAZ associated protein 1
DCC DCC netrin 1 receptor
DIS3L DIS3 like exosome 3'-5' exoribonuclease
DOK5 docking protein 5
DXO decapping exoribonuclease
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGFL8 EGF-like-domain, multiple 8
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EHMT2 euchromatic histone-lysine N-methyltransferase 2
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EPB41L4A erythrocyte membrane protein band 4.1 like 4A
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC2 excision repair cross-complementation group 2
ESR1 estrogen receptor 1
F13B coagulation factor XIII, B polypeptide
FADS1 fatty acid desaturase 1
FAM177B family with sequence similarity 177, member B
FBLN5 fibulin 5
FBXO15 F-box protein 15
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FRAT2 frequently rearranged in advanced T-cell lymphomas 2
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
GJA8 gap junction protein, alpha 8, 50kDa
GPR152 G protein-coupled receptor 152
GPX1 glutathione peroxidase 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMCN1 hemicentin 1
HTRA1 HtrA serine peptidase 1
IL10 interleukin 10
IL1B interleukin 1, beta
IL6 interleukin 6
INHBC inhibin, beta C
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KCNT2 potassium channel, sodium activated subfamily T, member 2
KDR kinase insert domain receptor
KIF21B kinesin family member 21B
KLF12 Kruppel-like factor 12
KLHL20 kelch-like family member 20
LIPC lipase, hepatic
LPL lipoprotein lipase
LY6G5C lymphocyte antigen 6 complex, locus G5C
LY6G6F lymphocyte antigen 6 complex, locus G6F
MAP2 microtubule-associated protein 2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP3K19 mitogen-activated protein kinase kinase kinase 19
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MASP2 mannan-binding lectin serine peptidase 2
METTL16 methyltransferase like 16
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MSH5 mutS homolog 5
MSN moesin
MT-ND2 MTND2
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTA1 metastasis associated 1
MYO16 myosin XVI
NAA30 N(alpha)-acetyltransferase 30, NatC catalytic subunit
NAPEPLD N-acyl phosphatidylethanolamine phospholipase D
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NCAM2 neural cell adhesion molecule 2
NELFE negative elongation factor complex member E
NFIB nuclear factor I/B
NOS2 nitric oxide synthase 2, inducible
NOTCH4 notch 4
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
OSBP2 oxysterol binding protein 2
PADI1 peptidyl arginine deiminase, type I
PAK7 p21 protein (Cdc42/Rac)-activated kinase 7
PARP1 poly (ADP-ribose) polymerase 1
PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
PLA2G12A phospholipase A2, group XIIA
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
PLEKHB1 pleckstrin homology domain containing, family B (evectins) member 1
PON1 paraoxonase 1
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit
PRPH2 peripherin 2 (retinal degeneration, slow)
PSEN1 presenilin 1
PSEN2 presenilin 2
PTGES3 prostaglandin E synthase 3 (cytosolic)
REST RE1-silencing transcription factor
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RIMS3 regulating synaptic membrane exocytosis 3
RMDN2 regulator of microtubule dynamics 2
RNF112 ring finger protein 112
RNF125 ring finger protein 125, E3 ubiquitin protein ligase
RNF5 ring finger protein 5, E3 ubiquitin protein ligase
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RREB1 ras responsive element binding protein 1
SAPCD1 suppressor APC domain containing 1
SCARB1 scavenger receptor class B, member 1
SCGB1D1 secretoglobin, family 1D, member 1
SCGB2A2 secretoglobin, family 2A, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SET SET nuclear proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC14A2 solute carrier family 14 (urea transporter), member 2
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC9C2 solute carrier family 9, member C2 (putative)
SNAPC5 small nuclear RNA activating complex, polypeptide 5, 19kDa
SNTG1 syntrophin, gamma 1
SOD2 superoxide dismutase 2, mitochondrial
STAT2 signal transducer and activator of transcription 2, 113kDa
STK19 serine/threonine kinase 19
SYN3 synapsin III
TIMM21 translocase of inner mitochondrial membrane 21 homolog (yeast)
TIMP3 TIMP metallopeptidase inhibitor 3
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNMD tenomodulin
TNXB tenascin XB
TOMM34 translocase of outer mitochondrial membrane 34
TRMT13 tRNA methyltransferase 13 homolog (S. cerevisiae)
VAV2 vav 2 guanine nucleotide exchange factor
VEGFA vascular endothelial growth factor A
VTN vitronectin
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YOD1 YOD1 deubiquitinase
YY1AP1 YY1 associated protein 1
ZBTB41 zinc finger and BTB domain containing 41