Leber Congenital Amaurosis Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (Human Disease Ontology, DOID_14791)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D057130
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Genes

8 genes/proteins associated with the disease Leber Congenital Amaurosis from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 2.88009
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 2.88009
SPATA7 spermatogenesis associated 7 2.88009
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 2.88009
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 2.88009
CRX cone-rod homeobox 2.88009
RPE65 retinal pigment epithelium-specific protein 65kDa 2.88009
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 2.88009