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: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.020 None 1.000 2 2019 2019
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.120 None 1.000 2 2 1997 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: C0008495
Disease: Chorioamnionitis
Chorioamnionitis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 132 2 0.020 None < 0.001 2 2017 2019
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: 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: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.020 None 0.500 2 1992 2019
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: 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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.120 None 1.000 2 3 1996 1998
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: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None 1.000 1 2019 2019
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.110 None 1.000 1 2000 2000
CUI: C0456065
Disease: Infant, Extremely Low Birth Weight
Infant, Extremely Low Birth Weight 		phenotype Disease or Syndrome 15 1 0.010 None 1.000 1 2019 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.010 None 1.000 1 2016 2016
CUI: C3831078
Disease: Clinical Chorioamnionitis
Clinical Chorioamnionitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C0339513
Disease: Dominant drusen
Dominant drusen 		disease Congenital Abnormality 4 2 0.010 None 1.000 1 1 2002 2002
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.010 None 1.000 1 2006 2006
CUI: C3711368
Disease: Surfactant Dysfunction
Surfactant Dysfunction 		disease Respiratory Tract Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 8 5 0.010 None < 0.001 1 2019 2019
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 18 1 0.110 None 1.000 1 2018 2018
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.010 None 1.000 1 4 2011 2011
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: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.010 None 1.000 1 2013 2013