Drusen Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. (Human Phenotype Ontology, HP_0011510)
External Link https://www.disgenet.org/browser/0/1/0/C1260959
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Genes

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

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACAD10 acyl-CoA dehydrogenase family, member 10
ALB albumin
AMD1 adenosylmethionine decarboxylase 1
ANG angiogenin, ribonuclease, RNase A family, 5
APOB apolipoprotein B
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARMS2 age-related maculopathy susceptibility 2
C5 complement component 5
C9ORF3 chromosome 9 open reading frame 3
CD59 CD59 molecule, complement regulatory protein
CD5L CD5 molecule-like
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
CFI complement factor I
CLU clusterin
COL8A1 collagen, type VIII, alpha 1
CRP C-reactive protein, pentraxin-related
CRYAB crystallin, alpha B
CRYBB2 crystallin, beta B2
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CXCL11 chemokine (C-X-C motif) ligand 11
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
FBLN5 fibulin 5
FHL1 four and a half LIM domains 1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GUCA1A guanylate cyclase activator 1A (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1
HTRA1 HtrA serine peptidase 1
IFT172 intraflagellar transport 172
IMPG1 interphotoreceptor matrix proteoglycan 1
KERA keratocan
KMT2A lysine (K)-specific methyltransferase 2A
LIPC lipase, hepatic
NFE2L2 nuclear factor, erythroid 2-like 2
OXA1L oxidase (cytochrome c) assembly 1-like
PLXNA2 plexin A2
PRPH2 peripherin 2 (retinal degeneration, slow)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RGR retinal G protein coupled receptor
RPE ribulose-5-phosphate-3-epimerase
RPE65 retinal pigment epithelium-specific protein 65kDa
SOD1 superoxide dismutase 1, soluble
TIMP3 TIMP metallopeptidase inhibitor 3
VEGFA vascular endothelial growth factor A
VTN vitronectin
XYLT1 xylosyltransferase I
XYLT2 xylosyltransferase II