PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 22 0.910 limited 1.000 14 22 1985 2016
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 16 0.750 limited 1.000 10 14 1997 2016
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		disease Eye Diseases Disease or Syndrome 2 5 0.700 limited 1.000 4 5 2006 2016
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		disease Eye Diseases Congenital Abnormality 9 21 0.700 limited 1.000 1 1993 1993
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		disease Eye Diseases Disease or Syndrome 1 16 0.600 limited 1.000 4 16 1993 2016
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		disease Eye Diseases Disease or Syndrome 10 10 0.540 None 1.000 4 1 1993 1997
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 74 120 0.430 None 1.000 4 1 2011 2019
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		disease Eye Diseases Disease or Syndrome 10 5 0.380 None 1.000 9 3 1995 2019
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.340 None 1.000 6 3 1996 2016
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 45 24 0.340 None 1.000 4 2007 2016
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease Disease or Syndrome 23 317 0.320 None 1.000 2 2007 2012
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		disease Disease or Syndrome 7 0.310 None 1.000 2 1993 1996
CUI: C4509881
Disease: Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus 		disease Disease or Syndrome 3 0.310 None 1.000 1 2007 2007
CUI: C2675552
Disease: Retinitis Pigmentosa 7, Digenic
Retinitis Pigmentosa 7, Digenic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 2 0.300 None 1.000 2 1 1985 2002
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18 		phenotype Finding 1 2 0.300 None 1.000 2 2 1985 2002
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C2745945
Disease: Juvenile-Onset Vitelliform Macular Dystrophy
Juvenile-Onset Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.300 None 0
CUI: C1868569
Disease: Patterned dystrophy of retinal pigment epithelium
Patterned dystrophy of retinal pigment epithelium 		disease Eye Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1837029
Disease: Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 		disease Eye Diseases Disease or Syndrome 3 4 0.300 None 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.260 None 0.857 7 1 1993 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.200 None 0.974 39 19 1991 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.200 None 1.000 21 3 1993 2019
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 42 1 0.200 None 1.000 2 1985 2002
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 52 59 0.180 None 1.000 10 5 1993 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.170 None 1.000 8 3 1998 2017