PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
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: C4016314
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 		phenotype Finding 3 5 0.400 moderate 1.000 1 1 2004 2004
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 0.010 None 1.000 1 2007 2007
CUI: C4024762
Disease: Pattern dystrophy of the retina
Pattern dystrophy of the retina 		disease Eye Diseases Disease or Syndrome 4 0.030 None 1.000 3 1995 2001
CUI: C0339513
Disease: Dominant drusen
Dominant drusen 		disease Congenital Abnormality 4 2 0.010 None 1.000 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 1995 1995
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 22 0.010 None 1.000 1 1996 1996
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		disease Disease or Syndrome 7 0.010 None 1.000 1 1996 1996
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 0.030 None 1.000 3 1997 2008
CUI: C1850386
Disease: GIANT AXONAL NEUROPATHY 1
GIANT AXONAL NEUROPATHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 20 0.010 None 1.000 1 2015 2015
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		disease Eye Diseases Disease or Syndrome 10 5 0.040 None 1.000 4 1995 2009
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		disease Eye Diseases Disease or Syndrome 10 10 0.010 None 1.000 1 1997 1997
CUI: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C1843505
Disease: Degeneration of anterior horn cells
Degeneration of anterior horn cells 		phenotype Nervous System Diseases Finding 15 0.100 None 0
CUI: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		phenotype Finding 21 0.100 None 0
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		disease Disease or Syndrome 31 2 0.010 None 1.000 1 1994 1994
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		disease Congenital Abnormality 39 10 0.030 None 1.000 3 1996 2009
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		phenotype Finding 39 0.100 None 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 45 24 0.010 None 1.000 1 1993 1993
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.010 None 1.000 1 1997 1997
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 0.100 None 0
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		group Eye Diseases Disease or Syndrome 49 24 0.020 None 1.000 2 1996 2019
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 52 59 0.030 None 1.000 3 1996 2009
CUI: C0043352
Disease: Xerostomia
Xerostomia 		disease Stomatognathic Diseases Finding 56 1 0.100 None 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype Finding 60 0.100 None 0
CUI: C0522224
Disease: Paralysed
Paralysed 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 0.100 None 0