chorioretinal atrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Atrophy of the choroid and retinal layers of the fundus. (Human Phenotype Ontology, HP_0000533)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000533
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Genes

11 genes associated with the chorioretinal atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
FSCN2 fascin actin-bundling protein 2, retinal
JAG1 jagged 1
NRL neural retina leucine zipper
OAT ornithine aminotransferase
PAX2 paired box 2
SAG S-antigen; retina and pineal gland (arrestin)
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
VCAN versican