Macular Dystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. (Human Phenotype Ontology, HP_0007754)
External Link https://www.disgenet.org/browser/0/1/0/C0730292
Similar Terms
Downloads & Tools

Genes

142 genes associated with the disease Macular Dystrophy 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
ACTN4 actinin, alpha 4
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALB albumin
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
AMD1 adenosylmethionine decarboxylase 1
ANGPTL4 angiopoietin-like 4
ANXA1 annexin A1
ATF6 activating transcription factor 6
BCL2 B-cell CLL/lymphoma 2
BEST1 bestrophin 1
BMP4 bone morphogenetic protein 4
C2ORF71 chromosome 2 open reading frame 71
CALB2 calbindin 2
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CCL5 chemokine (C-C motif) ligand 5
CD19 CD19 molecule
CD27 CD27 molecule
CD40LG CD40 ligand
CD80 CD80 molecule
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB3 cyclic nucleotide gated channel beta 3
COL10A1 collagen, type X, alpha 1
COL18A1 collagen, type XVIII, alpha 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRP C-reactive protein, pentraxin-related
CRX cone-rod homeobox
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CUL4B cullin 4B
DDIT3 DNA-damage-inducible transcript 3
DDN dendrin
DEPDC5 DEP domain containing 5
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
ECM1 extracellular matrix protein 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGF epidermal growth factor
ELOVL4 ELOVL fatty acid elongase 4
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
EYS eyes shut homolog (Drosophila)
F9 coagulation factor IX
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRAP2 GRB2-related adaptor protein 2
GUCA1A guanylate cyclase activator 1A (retina)
HAMP hepcidin antimicrobial peptide
HDAC11 histone deacetylase 11
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HTN3 histatin 3
IL13 interleukin 13
IL23A interleukin 23, alpha subunit p19
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
IL6 interleukin 6
IMPG1 interphotoreceptor matrix proteoglycan 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INF2 inverted formin, FH2 and WH2 domain containing
ISG20 interferon stimulated exonuclease gene 20kDa
KDR kinase insert domain receptor
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
KRT12 keratin 12, type I
KRT3 keratin 3, type II
LCAT lecithin-cholesterol acyltransferase
MADCAM1 mucosal vascular addressin cell adhesion molecule 1
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3
MFSD8 major facilitator superfamily domain containing 8
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MLYCD malonyl-CoA decarboxylase
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC1 mucin 1, cell surface associated
MYOM2 myomesin 2
MZB1 marginal zone B and B1 cell-specific protein
NFE2L2 nuclear factor, erythroid 2-like 2
NIPAL1 NIPA-like domain containing 1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NPRL2 nitrogen permease regulator-like 2 (S. cerevisiae)
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
PDCD1 programmed cell death 1
PEX1 peroxisomal biogenesis factor 1
PITPNM3 PITPNM family member 3
PLA2G1B phospholipase A2, group IB (pancreas)
PLAT plasminogen activator, tissue
PLB1 phospholipase B1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PROM1 prominin 1
PRPH peripherin
PRPH2 peripherin 2 (retinal degeneration, slow)
RAB28 RAB28, member RAS oncogene family
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RDH5 retinol dehydrogenase 5 (11-cis/9-cis)
REG1A regenerating islet-derived 1 alpha
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
ROM1 retinal outer segment membrane protein 1
RP2 retinitis pigmentosa 2 (X-linked recessive)
RPE ribulose-5-phosphate-3-epimerase
RPGR retinitis pigmentosa GTPase regulator
RPL17 ribosomal protein L17
RPL23 ribosomal protein L23
S100A4 S100 calcium binding protein A4
SCN1A sodium channel, voltage gated, type I alpha subunit
SECTM1 secreted and transmembrane 1
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SOD2 superoxide dismutase 2, mitochondrial
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TAT tyrosine aminotransferase
THSD7A thrombospondin, type I, domain containing 7A
TIMP3 TIMP metallopeptidase inhibitor 3
TLR4 toll-like receptor 4
TMEM206 transmembrane protein 206
TNF tumor necrosis factor
TSC1 tuberous sclerosis 1
TSPAN7 tetraspanin 7
TST thiosulfate sulfurtransferase (rhodanese)
TUBA1A tubulin, alpha 1a
TUBA1B tubulin, alpha 1b
TUBB3 tubulin, beta 3 class III
TUBG1 tubulin, gamma 1
UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VEGFA vascular endothelial growth factor A
WDR62 WD repeat domain 62
XBP1 X-box binding protein 1
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta