leber congenital amaurosis Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
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)
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Genes

20 genes involed in the disease leber congenital amaurosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
CEP290 centrosomal protein 290kDa
CNGA3 cyclic nucleotide gated channel alpha 3
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
GDF6 growth differentiation factor 6
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
LCA5 Leber congenital amaurosis 5
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MYO7A myosin VIIA
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SDCCAG8 serologically defined colon cancer antigen 8
SPATA7 spermatogenesis associated 7
TULP1 tubby like protein 1
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