PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Disease: Age related macular degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.060 GeneticVariation disease BEFREE PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. 20213611 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.060 GeneticVariation disease BEFREE This paper demonstrates that visual prognosis in macular dystrophies associated with peripherin/RDS may be mutation specific and, for the Arg172Trp substitution, worse than the Arg142Trp and Arg172Gln substitutions. 19262438 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.060 GeneticVariation disease BEFREE Different macular dystrophy phenotypes according to the mutations in peripherin/RDS are shown. 17653047 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.060 GeneticVariation disease BEFREE Evaluation of the peripherin/RDS gene as a candidate gene in families with age-related macular degeneration. 10202289 1999
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.060 GeneticVariation disease BEFREE Autosomal dominant butterfly-shaped macular dystrophy is associated with different mutations of the peripherin/RDS gene. 8602784 1996
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.060 GeneticVariation disease BEFREE Mutations in the human peripherin/retinal degeneration slow (rds) gene have been found in patients with macular dystrophies as well as in those with autosomal dominant retinitis pigmentosa. 8058286 1994