NYX, nyctalopin, 60506

N. diseases: 36; N. variants: 20
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.
Night Blindness, Congenital Stationary, Type 1A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 19 0.920 None 1.000 6 18 1998 2019
Night blindness, congenital stationary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.700 strong 0.923 13 1 2000 2015
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 26 9 0.400 None 1.000 20 1993 2019
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.370 None 1.000 8 1 1998 2013
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 0.340 None 1.000 4 1998 2009
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.310 limited 1.000 1 2013 2013
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 8 0.300 None 0
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 0.300 None 0
Night blindness, congenital stationary, type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 0.300 None 0
Cone-rod synaptic disorder, congenital nonprogressive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 4 0.300 None 0
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.130 None 1.000 3 1 2006 2013
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.130 None 1.000 3 2007 2015
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation
disease Anatomical Abnormality 25 0.100 None 0
CUI: C0018975
Disease: Hemeralopia
Hemeralopia
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.100 None 0 1
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
Complete congenital stationary night blindness
disease Congenital Abnormality 6 0.070 None 1.000 7 1989 2015
Amaurosis congenita of Leber, type 1
disease Eye Diseases Disease or Syndrome 81 60 0.010 None 1.000 1 2002 2002
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 106 0.010 None 1.000 1 2002 2002