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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		disease Anatomical Abnormality 25 0.100 None 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.100 None 1.000 27 7 1991 2018
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		disease Congenital Abnormality 39 10 0.080 None 1.000 8 1 1993 2018
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		disease Eye Diseases Congenital Abnormality 9 21 0.700 limited 1.000 1 1993 1993
CUI: C0339513
Disease: Dominant drusen
Dominant drusen 		disease Congenital Abnormality 4 2 0.010 None 1.000 1 1 2002 2002
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: C0239119
Disease: Lenticonus
Lenticonus 		disease Congenital Abnormality 6 1 0.100 None 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.100 None 0
CUI: C4021563
Disease: Retinal nonattachment
Retinal nonattachment 		disease Eye Diseases Congenital Abnormality 7 0.100 None 0
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: 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: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 52 59 0.180 None 1.000 10 5 1993 2019
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: 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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.170 None 1.000 8 3 1998 2017
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: 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: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.120 None 1.000 5 4 1996 2012
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.040 None 1.000 4 1 2015 2019