retinitis pigmentosa Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (Human Disease Ontology, DOID_10584)
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Genes

29 genes associated with the disease retinitis pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
CERKL ceramide kinase-like
CNGB1 cyclic nucleotide gated channel beta 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
EYS eyes shut homolog (Drosophila)
FSCN2 fascin actin-bundling protein 2, retinal
GUCA1B guanylate cyclase activator 1B (retina)
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MERTK MER proto-oncogene, tyrosine kinase
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
PDC phosducin
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PRPF31 pre-mRNA processing factor 31
PRPH2 peripherin 2 (retinal degeneration, slow)
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
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