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RPGR - retinitis pigmentosa GTPase regulator
- Synonym(s) : CORDX1
- Previous symbols and names : COD1, CRD, RP15, RP3, cone dystrophy 1 (X-linked), retinitis pigmentosa 15
- Type : gene with protein product
- Chromosomal location : Xp11.4
- OMIM: 312610
- HGNC: 10295
- UniProtKB: Q92834
- Genatlas: RPGR
- Ensembl: ENSG00000156313
- IUPHAR-DB: -
- Reactome: Q92834
- LOVD: RPGR
Diseases list
- Disease-causing germline mutation(s) in Cone rod dystrophy
ORPHA:1872 
- Disease-causing germline mutation(s) in Primary ciliary dyskinesia
ORPHA:244 - Disease-causing germline mutation(s) in Primary ciliary dyskinesia-retinitis pigmentosa syndrome
ORPHA:247522 - Disease-causing germline mutation(s) in Retinitis pigmentosa
ORPHA:791 - Candidate gene tested in Achromatopsia
ORPHA:49382
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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