rs139185976, PRPH2

N. diseases: 3
Disease: Retinitis Pigmentosa 7 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation 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
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation UNIPROT Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. 19038374 2009
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation UNIPROT Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. 16799052 2006
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation UNIPROT Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies. 11485765 2001
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation 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
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation UNIPROT A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. 7862413 1995
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation 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
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation UNIPROT Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. 1427912 1992
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation UNIPROT A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. 1749427 1991
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
0.700 GeneticVariation UNIPROT Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. 1684223 1991