uveal disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:3480
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Genes

108 genes associated with the disease uveal disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 3.2821
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 3.22291
OCA2 oculocutaneous albinism II 3.1621
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 2.53382
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 2.21998
ZNF276 zinc finger protein 276 2.00811
DPEP1 dipeptidase 1 (renal) 1.99078
SPATA33 spermatogenesis associated 33 1.97083
SPIRE2 spire-type actin nucleation factor 2 1.82887
CDK10 cyclin-dependent kinase 10 1.74658
FANCA Fanconi anemia, complementation group A 1.72486
CHMP1A charged multivesicular body protein 1A 1.62979
PRDM7 PR domain containing 7 1.56544
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 1.53897
ANKRD11 ankyrin repeat domain 11 1.4597
TYR tyrosinase 1.37057
IRF4 interferon regulatory factor 4 1.35273
SPATA2L spermatogenesis associated 2-like 1.27943
NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae) 1.26953
CPNE7 copine VII 1.26235
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 1.22298
IFT54 intraflagellar transport 54 1.1703
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.980528
TTC3 tetratricopeptide repeat domain 3 0.919371
GAS8 growth arrest-specific 8 0.859585
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 0.736818
ZNF778 zinc finger protein 778 0.724126
CENPBD1 CENPB DNA-binding domains containing 1 0.652208
VASH2 vasohibin 2 0.595519
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 0.496271
FBXL17 F-box and leucine-rich repeat protein 17 0.496271
MTG2 mitochondrial ribosome-associated GTPase 2 0.469897
FLNB filamin B, beta 0.458784
KDM7A lysine (K)-specific demethylase 7A 0.458154
AKAP12 A kinase (PRKA) anchor protein 12 0.458027
NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 0.454009
PFKL phosphofructokinase, liver 0.451391
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 0.450706
TMEM45A transmembrane protein 45A 0.44753
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 0.444863
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit 0.444863
DOCK2 dedicator of cytokinesis 2 0.442536
ARMC4 armadillo repeat containing 4 0.438494
KLHL3 kelch-like family member 3 0.4338
MEP1A meprin A, alpha (PABA peptide hydrolase) 0.4338
TRIM62 tripartite motif containing 62 0.432502
ZDHHC21 zinc finger, DHHC-type containing 21 0.432502
RUFY3 RUN and FYVE domain containing 3 0.432502
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 0.432502
CNOT11 CCR4-NOT transcription complex, subunit 11 0.431297
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 0.431297
CDK6 cyclin-dependent kinase 6 0.430173
CNTNAP2 contactin associated protein-like 2 0.426309
TANGO6 transport and golgi organization 6 homolog (Drosophila) 0.425409
PDE3B phosphodiesterase 3B, cGMP-inhibited 0.423731
IVD isovaleryl-CoA dehydrogenase 0.423731
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) 0.422949
SCN9A sodium channel, voltage gated, type IX alpha subunit 0.422949
GUCA1C guanylate cyclase activator 1C 0.422949
COPB1 coatomer protein complex, subunit beta 1 0.422199
ZNF704 zinc finger protein 704 0.42148
DDA1 DET1 and DDB1 associated 1 0.42079
PARL presenilin associated, rhomboid-like 0.420125
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 0.420125
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 0.420125
COL11A1 collagen, type XI, alpha 1 0.418868
ZNF30 zinc finger protein 30 0.418868
SASH1 SAM and SH3 domain containing 1 0.418868
TCN2 transcobalamin II 0.418271
SPTA1 spectrin, alpha, erythrocytic 1 0.418271
ZNF792 zinc finger protein 792 0.417694
USO1 USO1 vesicle transport factor 0.414722
GFRA1 GDNF family receptor alpha 1 0.413178
ERAL1 Era-like 12S mitochondrial rRNA chaperone 1 0.413127
HEPHL1 hephaestin-like 1 0.412623
ZC3H4 zinc finger CCCH-type containing 4 0.412131
GRSF1 G-rich RNA sequence binding factor 1 0.411652
ICA1L islet cell autoantigen 1,69kDa-like 0.411652
HSPA8 heat shock 70kDa protein 8 0.411185
ELOVL6 ELOVL fatty acid elongase 6 0.411185
NUP35 nucleoporin 35kDa 0.410326
RLF rearranged L-myc fusion 0.409419
C7ORF50 chromosome 7 open reading frame 50 0.409002
NAGA N-acetylgalactosaminidase, alpha- 0.409002
TBCD tubulin folding cofactor D 0.408193
USP44 ubiquitin specific peptidase 44 0.407335
C8ORF34 chromosome 8 open reading frame 34 0.405638
ROCK1 Rho-associated, coiled-coil containing protein kinase 1 0.405638
STPG2 sperm-tail PG-rich repeat containing 2 0.404445
ANPEP alanyl (membrane) aminopeptidase 0.403685
SLC47A2 solute carrier family 47 (multidrug and toxin extrusion), member 2 0.402949
MATN2 matrilin 2 0.402769
TRAF3IP2-AS1 TRAF3IP2 antisense RNA 1 0.401891
FAM222B family with sequence similarity 222, member B 0.401213
FAM117B family with sequence similarity 117, member B 0.400555
CELA3A chymotrypsin-like elastase family, member 3A 0.399916
CRX cone-rod homeobox 0.399916
BPTF bromodomain PHD finger transcription factor 0.399603
CCDC33 coiled-coil domain containing 33 0.399295
MRPL30 mitochondrial ribosomal protein L30 0.398692
TRAF4 TNF receptor-associated factor 4 0.396336
CDKL2 cyclin-dependent kinase-like 2 (CDC2-related kinase) 0.396023
LIN7B lin-7 homolog B (C. elegans) 0.396023
ANGEL2 angel homolog 2 (Drosophila) 0.395715
KNSTRN kinetochore-localized astrin/SPAG5 binding protein 0.39481
DBF4 DBF4 zinc finger 0.394516
CEP192 centrosomal protein 192kDa 0.393094
SLC25A40 solute carrier family 25, member 40 0.392277