PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Retinitis punctata albescens (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 GeneticVariation disease BEFREE In this report we studied one sporadic type retinitis punctata albescens patient with the assumption that mutation in the peripherin/RDS gene could contribute to the disease phenotype. 9070228 1997
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 Biomarker disease BEFREE To screen for mutations in the rhodopsin, peripherin/RDS, and ROM1 genes in a family affected with retinitis punctata albescens. 8554077 1996
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 GeneticVariation disease BEFREE Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens. 8240110 1993
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 GeneticVariation disease BEFREE A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. 8485575 1993
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 GermlineCausalMutation disease ORPHANET A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. 8485575 1993
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		0.540 Biomarker disease CTD_human