Chorioretinal Atrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Atrophy of the choroid and retinal layers of the fundus. (Human Phenotype Ontology, HP_0000533)
External Link https://www.disgenet.org/browser/0/1/0/C4048273
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Genes

23 genes associated with the disease Chorioretinal Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
CDH3 cadherin 3, type 1, P-cadherin (placental)
CHM choroideremia (Rab escort protein 1)
CRX cone-rod homeobox
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
FSCN2 fascin actin-bundling protein 2, retinal
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
IMPG2 interphotoreceptor matrix proteoglycan 2
ISG15 ISG15 ubiquitin-like modifier
JAG1 jagged 1
LRP2 low density lipoprotein receptor-related protein 2
NDE1 nudE neurodevelopment protein 1
NOC2L nucleolar complex associated 2 homolog (S. cerevisiae)
OAT ornithine aminotransferase
PAX2 paired box 2
PRKCSH protein kinase C substrate 80K-H
PRPH2 peripherin 2 (retinal degeneration, slow)
RPE ribulose-5-phosphate-3-epimerase
SAG S-antigen; retina and pineal gland (arrestin)
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
VCAN versican
VEGFA vascular endothelial growth factor A