PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Disease: Pattern dystrophy of the retina ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024762
Disease: Pattern dystrophy of the retina
Pattern dystrophy of the retina 		0.030 GeneticVariation disease BEFREE Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina. 11704030 2001
CUI: C4024762
Disease: Pattern dystrophy of the retina
Pattern dystrophy of the retina 		0.030 GeneticVariation disease 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: C4024762
Disease: Pattern dystrophy of the retina
Pattern dystrophy of the retina 		0.030 GeneticVariation disease BEFREE This particular peripherin/RDS gene mutation is associated with dominantly inherited pattern dystrophy of the retina. 7710395 1995