Retinal Detachment Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_5327)
External Link https://www.disgenet.org/browser/0/1/0/C0035305
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Genes

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

Symbol Name
ADAMTSL1 ADAMTS-like 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALOX5AP arachidonate 5-lipoxygenase-activating protein
APAF1 apoptotic peptidase activating factor 1
ARL6IP6 ADP-ribosylation factor-like 6 interacting protein 6
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BCOR BCL6 corepressor
BECN1 beclin 1, autophagy related
BEST1 bestrophin 1
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3
C9 complement component 9
CAPN5 calpain 5
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CCN2 cellular communication network factor 2
CD34 CD34 molecule
CFD complement factor D (adipsin)
CHM choroideremia (Rab escort protein 1)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CXCL12 chemokine (C-X-C motif) ligand 12
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYSLTR2 cysteinyl leukotriene receptor 2
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DEAF1 DEAF1 transcription factor
EDN1 endothelin 1
EIF1 eukaryotic translation initiation factor 1
EPO erythropoietin
EPOR erythropoietin receptor
FAS Fas cell surface death receptor
FBLN2 fibulin 2
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FN1 fibronectin 1
FZD4 frizzled class receptor 4
GCH1 GTP cyclohydrolase 1
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HLA-A major histocompatibility complex, class I, A
HLA-C major histocompatibility complex, class I, C
HMGB1 high mobility group box 1
HP haptoglobin
IFNA2 interferon, alpha 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1B interleukin 1, beta
IL33 interleukin 33
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
IQSEC2 IQ motif and Sec7 domain 2
ISPD isoprenoid synthase domain containing
JAK2 Janus kinase 2
KIF11 kinesin family member 11
LARGE like-glycosyltransferase
LOXL3 lysyl oxidase-like 3
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LTA lymphotoxin alpha
LTBP2 latent transforming growth factor beta binding protein 2
MAP1LC3A microtubule-associated protein 1 light chain 3 alpha
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAP2K7 mitogen-activated protein kinase kinase 7
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MMP2 matrix metallopeptidase 2
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NDP Norrie disease (pseudoglioma)
NES nestin
NGF nerve growth factor (beta polypeptide)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NPY1R neuropeptide Y receptor Y1
NR3C2 nuclear receptor subfamily 3, group C, member 2
NSMCE2 non-SMC element 2, MMS21 homolog (S. cerevisiae)
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PAX6 paired box 6
PKD2L1 polycystic kidney disease 2-like 1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLXNA2 plexin A2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POU5F1 POU class 5 homeobox 1
PRDM5 PR domain containing 5
PRKCQ protein kinase C, theta
PRSS23 protease, serine, 23
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PVR poliovirus receptor
RAI1 retinoic acid induced 1
RHO rhodopsin
RPE ribulose-5-phosphate-3-epimerase
RS1 retinoschisin 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SF3B1 splicing factor 3b, subunit 1, 155kDa
SLCO4A1 solute carrier organic anion transporter family, member 4A1
SRR serine racemase
TEK TEK tyrosine kinase, endothelial
TENM3 teneurin transmembrane protein 3
TGFB2 transforming growth factor, beta 2
TMEM5 transmembrane protein 5
TNF tumor necrosis factor
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TP53 tumor protein p53
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TUBGCP6 tubulin, gamma complex associated protein 6
TYR tyrosinase
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XYLT2 xylosyltransferase II
YAP1 Yes-associated protein 1
ZNF408 zinc finger protein 408
ZNF469 zinc finger protein 469