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MIRAGE
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 |
|---|---|---|---|
| 5961 | PRPH2 | peripherin 2 | |
| 5995 | RGR | retinal G protein coupled receptor | |
| 6010 | RHO | rhodopsin | |
| 6017 | RLBP1 | retinaldehyde binding protein 1 | |
| 6647 | SOD1 | superoxide dismutase 1 | |
| 7399 | USH2A | usherin | |
| 9129 | PRPF3 | pre-mRNA processing factor 3 | |
| 10594 | PRPF8 | pre-mRNA processing factor 8 | |
| 23020 | SNRNP200 | small nuclear ribonucleoprotein U5 subunit 200 | |
| 23418 | CRB1 | crumbs cell polarity complex component 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 |
