PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Retinitis Pigmentosa 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. 26796962 2016
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. 19038374 2009
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. 16799052 2006
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 Biomarker disease MGD Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene. 11978760 2002
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies. 11485765 2001
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online. 10627133 1998
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 Biomarker disease BEFREE Linkage to the UCLA-RP09 disease gene was excluded for all eight candidate genes analyzed, including rhodopsin (RP4) and peripherin/RDS (RP7), for the four adRP loci RP1, RP9, RP10 and RP11, as well as for 17 phenotypic markers. 8571961 1996
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. 7862413 1995
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. 8020945 1994
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. 1427912 1992
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. 1684223 1991
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 GeneticVariation disease UNIPROT A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. 1749427 1991
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 Biomarker disease MGD Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes. 3830736 1985
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 Biomarker disease CTD_human
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 Biomarker disease GENOMICS_ENGLAND
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		0.910 CausalMutation disease CLINVAR