retinal disease Gene Set

Dataset DISEASES Experimental Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An eye disease that is located_in the retina. (Human Disease Ontology, DOID_5679)
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Genes

89 genes associated with the disease retinal disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
CFH complement factor H 3.31608
HTRA1 HtrA serine peptidase 1 3.31608
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) 2.50425
TGFBR3 transforming growth factor, beta receptor III 1.6758
LOXL1 lysyl oxidase-like 1 1.67092
CFB complement factor B 1.51016
APOC1 apolipoprotein C-I 1.37597
ATOH7 atonal homolog 7 (Drosophila) 1.07383
KIAA0825 KIAA0825 1.06123
MTAP methylthioadenosine phosphorylase 1.05198
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 1.05198
COL8A1 collagen, type VIII, alpha 1 0.923046
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a 0.894262
CARD10 caspase recruitment domain family, member 10 0.85991
PLEKHA7 pleckstrin homology domain containing, family A member 7 0.842276
SIX1 SIX homeobox 1 0.817078
SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8 0.790827
CAV1 caveolin 1, caveolae protein, 22kDa 0.790827
IER3 immediate early response 3 0.790827
NOTCH4 notch 4 0.790827
LIPC lipase, hepatic 0.774217
TGFBR1 transforming growth factor, beta receptor 1 0.774217
HS6ST3 heparan sulfate 6-O-sulfotransferase 3 0.752991
CCDC109B coiled-coil domain containing 109B 0.738873
RAD51B RAD51 paralog B 0.728541
NELFE negative elongation factor complex member E 0.69843
CFI complement factor I 0.670996
ZFPM2 zinc finger protein, FOG family member 2 0.63666
COL11A1 collagen, type XI, alpha 1 0.63666
ATF6B activating transcription factor 6 beta 0.63207
TNXB tenascin XB 0.63207
ARHGAP22 Rho GTPase activating protein 22 0.602429
SRBD1 S1 RNA binding domain 1 0.58494
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 0.561725
CETP cholesteryl ester transfer protein, plasma 0.544585
VEGFA vascular endothelial growth factor A 0.5306
PLXDC2 plexin domain containing 2 0.5306
FRK fyn-related Src family tyrosine kinase 0.52461
FOXO1 forkhead box O1 0.52461
CHEK2 checkpoint kinase 2 0.52461
GAS7 growth arrest-specific 7 0.52461
DCLK1 doublecortin-like kinase 1 0.52461
C3 complement component 3 0.52461
TMCO1 transmembrane and coiled-coil domains 1 0.486425
B3GALTL beta 1,3-galactosyltransferase-like 0.486425
REST RE1-silencing transcription factor 0.486425
NT5DC1 5'-nucleotidase domain containing 1 0.486425
COL10A1 collagen, type X, alpha 1 0.486425
BCAS3 breast carcinoma amplified sequence 3 0.464771
COL5A1 collagen, type V, alpha 1 0.438544
RERE arginine-glutamic acid dipeptide (RE) repeats 0.429338
ZWINT ZW10 interacting kinetochore protein 0.408752
ZBTB18 zinc finger and BTB domain containing 18 0.403461
TXNRD2 thioredoxin reductase 2 0.368757
ARID3A AT rich interactive domain 3A (BRIGHT-like) 0.345945
MYSM1 Myb-like, SWIRM and MPN domains 1 0.345945
FSTL5 follistatin-like 5 0.327313
NCKAP5 NCK-associated protein 5 0.327313
MCHR2 melanin-concentrating hormone receptor 2 0.311576
STOML1 stomatin (EPB72)-like 1 0.311576
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.297866
CCNL1 cyclin L1 0.285417
VEPH1 ventricular zone expressed PH domain-containing 1 0.264872
TBC1D21 TBC1 domain family, member 21 0.256228
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 0.256228
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 0.256228
NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 0.256228
AMY1A amylase, alpha 1A (salivary) 0.197766
MBL2 mannose-binding lectin (protein C) 2, soluble 0.197766
SCPEP1 serine carboxypeptidase 1 0.197766
INSR insulin receptor 0.15771
UST uronyl-2-sulfotransferase 0.15771
TCF4 transcription factor 4 0.15771
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 0.126165
OSCP1 organic solute carrier partner 1 0.126165
ELOVL5 ELOVL fatty acid elongase 5 0.126165
TYR tyrosinase 0.126165
KLHDC7A kelch domain containing 7A 0.100789
C1ORF132 chromosome 1 open reading frame 132 0.100789
NMRK2 nicotinamide riboside kinase 2 0.080593
POSTN periostin, osteoblast specific factor 0.080593
KCNK1 potassium channel, two pore domain subfamily K, member 1 0.080593
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) 0.064973
CREB5 cAMP responsive element binding protein 5 0.064973
MPRIP myosin phosphatase Rho interacting protein 0.064973
RAB30 RAB30, member RAS oncogene family 0.052255
CLIC5 chloride intracellular channel 5 0.052255
GLI3 GLI family zinc finger 3 0.043246
GRAMD3 GRAM domain containing 3 0.043246