abnormality of the iris Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. (Human Phenotype Ontology, HP_0000525)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000525
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Genes

76 genes associated with the abnormality of the iris phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
OCA2 oculocutaneous albinism II 3.12144
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 2.04487
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1 1.54733
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 1.44665
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1.04365
MTG2 mitochondrial ribosome-associated GTPase 2 0.844241
KDM7A lysine (K)-specific demethylase 7A 0.726078
NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 0.690584
PFKL phosphofructokinase, liver 0.667145
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 0.661809
TMEM45A transmembrane protein 45A 0.637546
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 0.616892
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit 0.616892
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 0.599122
DOCK2 dedicator of cytokinesis 2 0.599122
ARMC4 armadillo repeat containing 4 0.572823
MEP1A meprin A, alpha (PABA peptide hydrolase) 0.549174
KLHL3 kelch-like family member 3 0.549174
RUFY3 RUN and FYVE domain containing 3 0.543523
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 0.543523
ZDHHC21 zinc finger, DHHC-type containing 21 0.543523
TRIM62 tripartite motif containing 62 0.543523
CNOT11 CCR4-NOT transcription complex, subunit 11 0.539082
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 0.539082
CDK6 cyclin-dependent kinase 6 0.535185
TANGO6 transport and golgi organization 6 homolog (Drosophila) 0.519375
PDE3B phosphodiesterase 3B, cGMP-inhibited 0.514254
IVD isovaleryl-CoA dehydrogenase 0.514254
GUCA1C guanylate cyclase activator 1C 0.511765
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) 0.511765
SCN9A sodium channel, voltage gated, type IX alpha subunit 0.511765
COPB1 coatomer protein complex, subunit beta 1 0.509391
ZNF704 zinc finger protein 704 0.507122
DDA1 DET1 and DDB1 associated 1 0.50495
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 0.502867
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 0.502867
PARL presenilin associated, rhomboid-like 0.502867
SASH1 SAM and SH3 domain containing 1 0.498792
ZNF30 zinc finger protein 30 0.498792
SPTA1 spectrin, alpha, erythrocytic 1 0.496801
TCN2 transcobalamin II 0.496801
ZNF792 zinc finger protein 792 0.494882
USO1 USO1 vesicle transport factor 0.486163
ERAL1 Era-like 12S mitochondrial rRNA chaperone 1 0.481126
HEPHL1 hephaestin-like 1 0.479543
ZC3H4 zinc finger CCCH-type containing 4 0.478004
GRSF1 G-rich RNA sequence binding factor 1 0.476506
ICA1L islet cell autoantigen 1,69kDa-like 0.476506
HSPA8 heat shock 70kDa protein 8 0.475047
ELOVL6 ELOVL fatty acid elongase 6 0.475047
RLF rearranged L-myc fusion 0.469373
NAGA N-acetylgalactosaminidase, alpha- 0.467959
C7ORF50 chromosome 7 open reading frame 50 0.467959
TBCD tubulin folding cofactor D 0.465228
USP44 ubiquitin specific peptidase 44 0.462619
ROCK1 Rho-associated, coiled-coil containing protein kinase 1 0.457725
C8ORF34 chromosome 8 open reading frame 34 0.457725
STPG2 sperm-tail PG-rich repeat containing 2 0.454274
ANPEP alanyl (membrane) aminopeptidase 0.452042
SLC47A2 solute carrier family 47 (multidrug and toxin extrusion), member 2 0.449892
TRAF3IP2-AS1 TRAF3IP2 antisense RNA 1 0.446809
FAM222B family with sequence similarity 222, member B 0.44484
FAM117B family with sequence similarity 117, member B 0.442937
CRX cone-rod homeobox 0.441094
CELA3A chymotrypsin-like elastase family, member 3A 0.441094
BPTF bromodomain PHD finger transcription factor 0.440194
CCDC33 coiled-coil domain containing 33 0.439348
MRPL30 mitochondrial ribosomal protein L30 0.43784
TRAF4 TNF receptor-associated factor 4 0.432221
CDKL2 cyclin-dependent kinase-like 2 (CDC2-related kinase) 0.431561
LIN7B lin-7 homolog B (C. elegans) 0.431561
ANGEL2 angel homolog 2 (Drosophila) 0.43091
KNSTRN kinetochore-localized astrin/SPAG5 binding protein 0.429005
DBF4 DBF4 zinc finger 0.428386
CEP192 centrosomal protein 192kDa 0.425664
SLC25A40 solute carrier family 25, member 40 0.424501