PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.900 strong 1.000 22 19 1992 2019
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		disease Disease or Syndrome 1 22 0.900 limited 1.000 12 22 1993 2016
CUI: C1876182
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 1 0.900 None 1.000 6 1 1924 2007
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.720 strong 1.000 3 4 1994 2007
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.310 limited 1.000 1 2000 2000
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 125 2 0.300 None 1.000 4 1996 2014
CUI: C4041558
Disease: Cone-rod synaptic disorder, congenital nonprogressive
Cone-rod synaptic disorder, congenital nonprogressive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 4 0.300 None 1.000 1 1994 1994
CUI: C1864877
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 0.300 None 1.000 1 1994 1994
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 26 9 0.300 None 1.000 1 1994 1994
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 19 0.300 None 1.000 1 1994 1994
CUI: C3501847
Disease: Night blindness, congenital stationary, type 1
Night blindness, congenital stationary, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 0.300 None 1.000 1 1994 1994
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 8 0.300 None 1.000 1 1994 1994
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 0.300 None 1.000 1 1994 1994
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 4 2000 2013
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 32 21 0.200 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.110 None 1.000 1 1 2017 2017
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.110 None 1.000 1 2019 2019
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 0.110 None 1.000 1 2019 2019
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 31 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0