Retinal Degeneration Gene Set

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

21 genes associated with the Retinal Degeneration phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
CDHR1 cadherin-related family member 1
CEP290 centrosomal protein 290kDa
CFH complement factor H
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
FSCN2 fascin actin-bundling protein 2, retinal
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
LCA5 Leber congenital amaurosis 5
PRPH2 peripherin 2 (retinal degeneration, slow)
RD3 retinal degeneration 3
RHO rhodopsin
RPE65 retinal pigment epithelium-specific protein 65kDa
SP4 Sp4 transcription factor
USH2A Usher syndrome 2A (autosomal recessive, mild)