retinal coloboma Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A notch or cleft of the retina. (Human Phenotype Ontology, HP_0000480)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000480
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Genes

44 genes associated with the retinal coloboma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
HBB hemoglobin, beta 2.36493
OR51F1 olfactory receptor, family 51, subfamily F, member 1 (gene/pseudogene) 1.79316
OR51B5 olfactory receptor, family 51, subfamily B, member 5 1.6456
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 1.5462
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 1.41863
CDH13 cadherin 13 1.08774
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 1.06211
ZNF804A zinc finger protein 804A 1.04365
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 0.899912
NR1I2 nuclear receptor subfamily 1, group I, member 2 0.886251
OR51E2 olfactory receptor, family 51, subfamily E, member 2 0.881393
MAST2 microtubule associated serine/threonine kinase 2 0.850788
DIS3L2 DIS3 like 3'-5' exoribonuclease 2 0.844241
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.844241
PLXNA4 plexin A4 0.834343
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 0.834343
CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 0.817516
PLEKHA6 pleckstrin homology domain containing, family A member 6 0.809986
PARK2 parkin RBR E3 ubiquitin protein ligase 0.809986
FAM53B family with sequence similarity 53, member B 0.7965
CIAPIN1 cytokine induced apoptosis inhibitor 1 0.747666
MAML2 mastermind-like 2 (Drosophila) 0.734535
STON2 stonin 2 0.734535
WWOX WW domain containing oxidoreductase 0.722116
MEIS1 Meis homeobox 1 0.703894
MTMR10 myotubularin related protein 10 0.703894
HNMT histamine N-methyltransferase 0.697013
POLR2C polymerase (RNA) II (DNA directed) polypeptide C, 33kDa 0.687523
TSHZ2 teashirt zinc finger homeobox 2 0.681679
STAC SH3 and cysteine rich domain 0.681679
HNRNPUL1 heterogeneous nuclear ribonucleoprotein U-like 1 0.661809
OR13D1 olfactory receptor, family 13, subfamily D, member 1 0.639858
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 0.624663
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 0.622665
LRRTM4 leucine rich repeat transmembrane neuronal 4 0.613082
LOC648987 uncharacterized LOC648987 0.609408
RYR2 ryanodine receptor 2 (cardiac) 0.602436
ZNF329 zinc finger protein 329 0.602436
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 0.597506
OPCML opioid binding protein/cell adhesion molecule-like 0.594349
LOC400927 TPTE and PTEN homologous inositol lipid phosphatase pseudogene 0.592807
LINC01587 long intergenic non-protein coding RNA 1587 0.591289
DCLK1 doublecortin-like kinase 1 0.580678
DEPTOR DEP domain containing MTOR-interacting protein 0.562717