retinitis pigmentosa

Summary
Synonym
  • pericentral pigmentary retinopathy
Definition
A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
Super Class
retinal degeneration
Disease Ontology
DOID:10584
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 48 in total
Gene ID Gene Symbol Description Source
24 ABCA4 ATP binding cassette subfamily A member 4
762 CA4 carbonic anhydrase 4
847 CAT catalase
1258 CNGB1 cyclic nucleotide gated channel subunit beta 1
1259 CNGA1 cyclic nucleotide gated channel subunit alpha 1
1906 EDN1 endothelin 1
2232 FDXR ferredoxin reductase
2263 FGFR2 fibroblast growth factor receptor 2
2904 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B
3000 GUCY2D guanylate cyclase 2D, retinal
Displaying entries 11 - 20 of 34 in total
Gene ID Gene Symbol Description Source
18049 Ngf nerve growth factor
19133 Prph2 peripherin 2
19139 Prps1 phosphoribosyl pyrophosphate synthetase 1
19893 Rpgr retinitis pigmentosa GTPase regulator
20317 Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1
20655 Sod1 superoxide dismutase 1, soluble
21366 Slc6a6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6
22157 Tulp1 TUB like protein 1
22283 Ush2a usherin
22339 Vegfa vascular endothelial growth factor A
Displaying entries 1 - 10 of 17 in total
Gene ID Gene Symbol Description Source
24410 Grin2b glutamate ionotropic receptor NMDA type subunit 2B
24446 Hgf hepatocyte growth factor
24717 Rho rhodopsin
25022 Fgfr2 fibroblast growth factor receptor 2
25058 Hk1 hexokinase 1
25393 Bcan brevican
25534 Prph2 peripherin 2
29242 Car4 carbonic anhydrase 4
29464 Slc6a6 solute carrier family 6 member 6
66014 Impg1 interphotoreceptor matrix proteoglycan 1
Displaying all 10 entries
Gene ID Gene Symbol Description Source
36232 Sod3 Superoxide dismutase 3
36806 CngA Cyclic nucleotide-gated ion channel subunit A
39564 btl breathless
42160 htl heartless
42367 ninaE neither inactivation nor afterpotential E
42860 Root Rootletin
42896 crb crumbs
43191 Hex-t2 Hexokinase testis 2
117364 Hex-t1 Hexokinase testis 1
3771890 eys eyes shut
Displaying all 7 entries
Gene ID Gene Symbol Description Source
30295 rho rhodopsin
30682 vegfaa vascular endothelial growth factor Aa
58133 ngfb nerve growth factor b (beta polypeptide)
352940 fgfr2 fibroblast growth factor receptor 2
557044 eys eyes shut homolog
562845 rhol rhodopsin, like
571876 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying all 8 entries
Gene ID Gene Symbol Description Source Organism
380209 rho.L rhodopsin L homeolog Xenopus laevis (African clawed frog)
398002 prph2.S peripherin 2 (retinal degeneration, slow) S homeolog Xenopus laevis (African clawed frog)
402789 st3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Xenopus tropicalis (tropical clawed frog)
414570 pomgnt1.L protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog Xenopus laevis (African clawed frog)
495292 pomgnt1.S protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog Xenopus laevis (African clawed frog)
100037900 rho rhodopsin Xenopus tropicalis (tropical clawed frog)
100158594 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Xenopus tropicalis (tropical clawed frog)
108715858 rho.S rhodopsin S homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
171782 abt-2 ABC transporter domain-containing protein
177557 klo-1 Glycoside hydrolase family 1 protein
Displaying all 4 entries
Gene ID Gene Symbol Description Source
850317 GLK1 glucokinase
850614 HXK1 hexokinase 1
852128 EMI2 putative glucokinase
852639 HXK2 hexokinase 2

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