PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Disease: Adult-Onset Vitelliform Macular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.030 GeneticVariation disease BEFREE To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene. 18050133 2008
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.030 GeneticVariation disease BEFREE A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. 12566026 2003
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.030 GeneticVariation disease BEFREE Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. 9338584 1997