PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.050 Biomarker group BEFREE We identified a novel mutation of the retinal degeneration slow/peripherin gene in a family affected by different patterns of retinal dystrophy. 17851265 2007
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.050 GeneticVariation group BEFREE Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies. 11485765 2001
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.050 GeneticVariation group BEFREE This study indicates that RDS/peripherin mutations are a frequent cause of various types of central retinal dystrophies and that the RDS/peripherin gene exhibits a broad spectrum of allelic mutations. 9279751 1997
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.050 Biomarker group BEFREE Mutations in the retinal degeneration slow (RDS)/peripherin gene have been shown to be associated with pattern dystrophy of the retina (PDR) and other retinal dystrophies. 9238083 1996
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.050 GeneticVariation group BEFREE To define the phenotype of a retinal dystrophy associated with a 4-base pair insertion at codon 140 of the peripherin/RDS gene. 7710395 1995