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: 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: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18 		phenotype Finding 1 2 0.300 None 1.000 2 2 1985 2002
CUI: C4024776
Disease: Reticular retinal dystrophy
Reticular retinal dystrophy 		disease Disease or Syndrome 1 0.100 None 0
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: 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: C0730366
Disease: Rod dystrophy
Rod dystrophy 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 2 1996 1996
CUI: C4288779
Disease: Major Congenital Anomaly
Major Congenital Anomaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 2 0.010 None 1.000 1 2019 2019
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: 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: 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: C4073085
Disease: Foveal photoreceptor outer segment loss on macular OCT
Foveal photoreceptor outer segment loss on macular OCT 		phenotype Finding 3 0.100 None 0
CUI: C4024762
Disease: Pattern dystrophy of the retina
Pattern dystrophy of the retina 		disease Eye Diseases Disease or Syndrome 4 0.020 None 1.000 2 1995 2001
CUI: C0339513
Disease: Dominant drusen
Dominant drusen 		disease Congenital Abnormality 4 2 0.010 None 1.000 1 1 2002 2002
CUI: C1320640
Disease: Peripheral retinal degeneration
Peripheral retinal degeneration 		disease Eye Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 1 1996 1996
CUI: C1852548
Disease: Absent retinal pigment epithelium
Absent retinal pigment epithelium 		phenotype Finding 4 0.100 None 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: C4024817
Disease: Vitelliform-like macular lesions
Vitelliform-like macular lesions 		phenotype Finding 4 0.100 None 0
CUI: C4072991
Disease: Yellow/white lesions of the retina
Yellow/white lesions of the retina 		phenotype Finding 4 0.100 None 0
CUI: C4073101
Disease: Hyperautofluorescent macular lesion
Hyperautofluorescent macular lesion 		phenotype Finding 4 0.100 None 0
CUI: C0158940
Disease: Transitory tachypnea of newborn
Transitory tachypnea of newborn 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 5 0.010 None 1.000 1 2005 2005
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy 		phenotype Finding 5 0.100 None 0
CUI: C4024790
Disease: Adult-onset night blindness
Adult-onset night blindness 		disease Eye Diseases Disease or Syndrome 5 3 0.100 None 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4072867
Disease: obsolete Peripheral retinopathy
obsolete Peripheral retinopathy 		disease Disease or Syndrome 5 5 0.100 None 0 1
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula 		phenotype Finding 5 0.100 None 0