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 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 26 9 1.000 None 1.000 29 9 1998 2019
CUI: C0268505
Disease: Ocular albinism, type II
Ocular albinism, type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 7 3 0.760 None 1.000 8 3 1989 2019
Night blindness, congenital stationary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.700 strong 1.000 17 13 1993 2018
CUI: C1845407
Disease: CONE-ROD DYSTROPHY, X-LINKED, 3
CONE-ROD DYSTROPHY, X-LINKED, 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 3 0.610 None 1.000 2 3 2009 2015
Night Blindness, Congenital Stationary, Type 1A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 19 0.400 None 0 1
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 0.330 None 1.000 3 1998 2002
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.330 limited 1.000 3 1 2007 2014
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 0.310 None 1.000 3 2006 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None 1.000 1 2006 2006
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: C1306122
Disease: Oguchi disease
Oguchi disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 7 0.200 None 1.000 1 1 2008 2008
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.150 None 1.000 5 2004 2013
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.130 None 1.000 3 1 2006 2013
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.120 None 1.000 2 1 2007 2017
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.120 None 0.500 2 2006 2007
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.110 None 1.000 1 2007 2007
CUI: C0004106
Disease: Astigmatism
Astigmatism
disease Eye Diseases Disease or Syndrome 148 45 0.110 None < 0.001 1 2006 2006
Incomplete congenital stationary night blindness
disease Disease or Syndrome 3 2 0.100 None 1.000 10 2 2001 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.100 None 1.000 1 1 2015 2015
Progressive cone dystrophy (without rod involvement)
disease Eye Diseases Disease or Syndrome 9 6 0.100 None 1.000 1 1 2019 2019
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.100 None 0 1
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0