Macular Degeneration Gene Set

Dataset DisGeNET 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)
External Link https://www.disgenet.org/browser/0/1/0/C0024437
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Genes

61 genes associated with the disease Macular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
AFG3L2 AFG3-like AAA ATPase 2
APOE apolipoprotein E
ARMS2 age-related maculopathy susceptibility 2
ATXN7 ataxin 7
BBS10 Bardet-Biedl syndrome 10
BEST1 bestrophin 1
C1QTNF5 C1q and tumor necrosis factor related protein 5
C2 complement component 2
C3 complement component 3
C9 complement component 9
CD36 CD36 molecule (thrombospondin receptor)
CDHR1 cadherin-related family member 1
CFB complement factor B
CFH complement factor H
CFHR1 complement factor H-related 1
CFHR3 complement factor H-related 3
CFI complement factor I
CLN3 ceroid-lipofuscinosis, neuronal 3
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
COL18A1 collagen, type XVIII, alpha 1
CP ceruloplasmin (ferroxidase)
CRP C-reactive protein, pentraxin-related
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CX3CR1 chemokine (C-X3-C motif) receptor 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
E2F2 E2F transcription factor 2
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
ELOVL4 ELOVL fatty acid elongase 4
ERCC6 excision repair cross-complementation group 6
F3 coagulation factor III (thromboplastin, tissue factor)
FBLN5 fibulin 5
FBN2 fibrillin 2
FSCN2 fascin actin-bundling protein 2, retinal
GPX3 glutathione peroxidase 3
HMCN1 hemicentin 1
HTRA1 HtrA serine peptidase 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
LRRTM4 leucine rich repeat transmembrane neuronal 4
MFRP membrane frizzled-related protein
MMP2 matrix metallopeptidase 2
PLXNA2 plexin A2
PROM1 prominin 1
PRPF31 pre-mRNA processing factor 31
PRPH2 peripherin 2 (retinal degeneration, slow)
RAX2 retina and anterior neural fold homeobox 2
RPE ribulose-5-phosphate-3-epimerase
RPGR retinitis pigmentosa GTPase regulator
RS1 retinoschisin 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR2 toll-like receptor 2
TST thiosulfate sulfurtransferase (rhodanese)
TTPA tocopherol (alpha) transfer protein
TUBB6 tubulin, beta 6 class V
VEGFA vascular endothelial growth factor A
VLDLR very low density lipoprotein receptor
VSX1 visual system homeobox 1