PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4509881
Disease: Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus 		0.310 GeneticVariation disease BEFREE To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1). 17504850 2007
CUI: C4509881
Disease: Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus 		0.310 GermlineCausalMutation disease ORPHANET To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1). 17504850 2007