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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
External Links
- Disease Ontology
- DOID:10584
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| 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 | |
| 3000 | GUCY2D | guanylate cyclase 2D, retinal | |
| 3098 | HK1 | hexokinase 1 | |
| 3617 | IMPG1 | interphotoreceptor matrix proteoglycan 1 | |
| 5176 | SERPINF1 | serpin family F member 1 | |
| 5631 | PRPS1 | phosphoribosyl pyrophosphate synthetase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43395 | U4/U6 small nuclear ribonucleoprotein Prp3 | |
| O75445 | Usherin | |
| O75643 | U5 small nuclear ribonucleoprotein 200 kDa helicase | |
| P00441 | Superoxide dismutase [Cu-Zn] | |
| P04040 | Catalase | |
| P08100 | Rhodopsin | |
| P12271 | Retinaldehyde-binding protein 1 | |
| P19367 | Hexokinase-1 | |
| P23942 | Peripherin-2 | |
| P29973 | Cyclic nucleotide-gated channel alpha-1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35316 | Sodium- and chloride-dependent taurine transporter | |
| Q6NS45 | Coiled-coil domain-containing protein 66 | |
| Q80YA8 | Protein crumbs homolog 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| F1LNW0 | Fibroblast growth factor receptor | |
| Q8CJ58 | Clarin-1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06002 | Opsin Rh1 | |
| P10040 | Protein crumbs |
