Macular Degeneration Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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

148 genes associated with the Macular Degeneration phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
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
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AHR aryl hydrocarbon receptor
AMD1 adenosylmethionine decarboxylase 1
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARMS2 age-related maculopathy susceptibility 2
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
BEST1 bestrophin 1
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
C7 complement component 7
C8A complement component 8, alpha polypeptide
C8B complement component 8, beta polypeptide
C9 complement component 9
CAPN10 calpain 10
CAT catalase
CC2D1A coiled-coil and C2 domain containing 1A
CCL2 chemokine (C-C motif) ligand 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
CKB creatine kinase, brain
CLU clusterin
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRP C-reactive protein, pentraxin-related
CST3 cystatin C
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
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
ELAVL4 ELAV like neuron-specific RNA binding protein 4
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ESR1 estrogen receptor 1
F13A1 coagulation factor XIII, A1 polypeptide
F13B coagulation factor XIII, B polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FADS1 fatty acid desaturase 1
FBLN5 fibulin 5
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FSCN2 fascin actin-bundling protein 2, retinal
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GPX1 glutathione peroxidase 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HFE hemochromatosis
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
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTRA1 HtrA serine peptidase 1
IL10 interleukin 10
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL6 interleukin 6
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KDR kinase insert domain receptor
LAMB3 laminin, beta 3
LAMC1 laminin, gamma 1 (formerly LAMB2)
LAMC2 laminin, gamma 2
LIPC lipase, hepatic
LPL lipoprotein lipase
LRP6 low density lipoprotein receptor-related protein 6
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MASP2 mannan-binding lectin serine peptidase 2
MBL2 mannose-binding lectin (protein C) 2, soluble
MGST1 microsomal glutathione S-transferase 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MT-ND2 MTND2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NELFE negative elongation factor complex member E
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPY neuropeptide Y
OGG1 8-oxoguanine DNA glycosylase
OSBP2 oxysterol binding protein 2
PARP1 poly (ADP-ribose) polymerase 1
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
PON1 paraoxonase 1
PRPH2 peripherin 2 (retinal degeneration, slow)
PSEN1 presenilin 1
PSEN2 presenilin 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RET ret proto-oncogene
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RORA RAR-related orphan receptor A
SCARB1 scavenger receptor class B, member 1
SELE selectin E
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
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SOD2 superoxide dismutase 2, mitochondrial
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TF transferrin
TIMP3 TIMP metallopeptidase inhibitor 3
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TNMD tenomodulin
VEGFA vascular endothelial growth factor A
VLDLR very low density lipoprotein receptor
VTN vitronectin
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1