Retinitis Pigmentosa Gene Set

Dataset CTD 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)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D012174
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Genes

32 genes/proteins associated with the disease Retinitis Pigmentosa from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
CNGB1 cyclic nucleotide gated channel beta 1 2.88009
TTPA tocopherol (alpha) transfer protein 2.88009
CRX cone-rod homeobox 2.88009
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 2.88009
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 2.88009
RPE65 retinal pigment epithelium-specific protein 65kDa 2.88009
EYS eyes shut homolog (Drosophila) 2.88009
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 2.88009
MERTK MER proto-oncogene, tyrosine kinase 2.88009
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 2.88009
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 2.88009
GUCA1B guanylate cyclase activator 1B (retina) 2.88009
RLBP1 retinaldehyde binding protein 1 2.88009
CNGA1 cyclic nucleotide gated channel alpha 1 2.88009
UNC119 unc-119 homolog (C. elegans) 2.88009
RPGR retinitis pigmentosa GTPase regulator 2.88009
RHO rhodopsin 2.88009
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 2.88009
SPATA7 spermatogenesis associated 7 2.88009
NRL neural retina leucine zipper 2.88009
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 2.88009
RGR retinal G protein coupled receptor 2.88009
USH2A Usher syndrome 2A (autosomal recessive, mild) 2.88009
RBP3 retinol binding protein 3, interstitial 2.88009
RP24 retinitis pigmentosa 24 (X-linked recessive) 2.88009
RP22 retinitis pigmentosa 22 (autosomal recessive) 2.88009
FAM161A family with sequence similarity 161, member A 2.88009
IDH3B isocitrate dehydrogenase 3 (NAD+) beta 2.88009
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 2.88009
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 2.88009
C2ORF71 chromosome 2 open reading frame 71 2.88009
SAG S-antigen; retina and pineal gland (arrestin) 2.88009