Leber Congenital Amaurosis Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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

7 genes associated with the Leber Congenital Amaurosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
C2ORF71 chromosome 2 open reading frame 71
IQCB1 IQ motif containing B1
LCA5 Leber congenital amaurosis 5
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RD3 retinal degeneration 3