KEGG   VARIANT: 5961v1
Entry
5961v1                      Variant                                
Name
PRPH2 mutation
Type
Loss of function
Gene
PRPH2  peripherin 2 [KO:K17343]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 179605
Network
nt06541  Cytoskeleton in neurons
Disease
H00527  Retinitis pigmentosa
H00814  Vitelliform macular dystrophy
H01768  Central areolar choroidal dystrophy
H01890  Pattern dystrophies of the retinal pigment epithelium
Reference
PMID:25167981
  Authors
Conley SM, Naash MI
  Title
Gene therapy for PRPH2-associated ocular disease: challenges and prospects.
  Journal
Cold Spring Harb Perspect Med 4:a017376 (2014)
DOI:10.1101/cshperspect.a017376
LinkDB

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