PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
0.700 GeneticVariation disease UNIPROT In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. 26796962 2016
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
0.700 GeneticVariation disease UNIPROT PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. 20213611 2011
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
0.700 GeneticVariation disease UNIPROT Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. 19038374 2009
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
0.700 GeneticVariation disease UNIPROT Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. 16832026 2006
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
0.700 Biomarker disease CTD_human
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
0.700 Biomarker disease GENOMICS_ENGLAND
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
0.700 CausalMutation disease CLINVAR