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: C1864870
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.700 None 1.000 2 2 1996 2007
CUI: C4225345
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G 		disease Disease or Syndrome 1 1 0.600 limited 1.000 1 1 2012 2012
CUI: C3669212
Disease: Progressive retinal atrophy
Progressive retinal atrophy 		disease Disease or Syndrome 6 0.010 None 1.000 1 1997 1997
CUI: C3551052
Disease: Night blindness, stationary
Night blindness, stationary 		disease Disease or Syndrome 10 0.020 None 1.000 2 2012 2016
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 0
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 0
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 0
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 0
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 0
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 0
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		disease Eye Diseases Disease or Syndrome 17 3 0.010 None 1.000 1 2016 2016
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		disease Anatomical Abnormality 25 0.100 None 0
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 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: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.730 strong 1.000 4 2 1996 2016
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype Finding 98 4 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: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.100 None 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.010 None 1.000 1 2016 2016
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: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2005 2005
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.020 None 1.000 2 2016 2019
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 645 213 0.010 None 1.000 1 2019 2019