Retinal Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The presence of developmental dysplasia of the retina. (Human Phenotype Ontology, HP_0007973)
External Link https://www.disgenet.org/browser/0/1/0/C0035313
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Genes

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

Symbol Name
ATF6 activating transcription factor 6
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
CKM creatine kinase, muscle
CLTA clathrin, light chain A
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COX7B cytochrome c oxidase subunit VIIb
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
FKRP fukutin related protein
FKTN fukutin
FLNB filamin B, beta
FOXE3 forkhead box E3
FZD4 frizzled class receptor 4
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HCCS holocytochrome c synthase
ISPD isoprenoid synthase domain containing
KIF11 kinesin family member 11
LARGE like-glycosyltransferase
LEP leptin
MPDZ multiple PDZ domain protein
NDP Norrie disease (pseudoglioma)
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NR2E3 nuclear receptor subfamily 2, group E, member 3
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
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
PRSS23 protease, serine, 23
PTPRC protein tyrosine phosphatase, receptor type, C
SLBP stem-loop binding protein
TMEM5 transmembrane protein 5
TSPAN12 tetraspanin 12
VEGFA vascular endothelial growth factor A