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: C1858386
Disease: Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 4 		disease Eye Diseases Disease or Syndrome 1 5 0.930 None 1.000 20 5 2000 2017
CUI: C2751763
Disease: Retinitis Pigmentosa, Juvenile, Aipl1-Related
Retinitis Pigmentosa, Juvenile, Aipl1-Related 		disease Eye Diseases Disease or Syndrome 1 1 0.600 None 1.000 4 1 2004 2017
CUI: C2751764
Disease: CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)
CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder) 		disease Eye Diseases Disease or Syndrome 1 1 0.600 None 1.000 4 1 2004 2017
CUI: C2931387
Disease: Leber congenital amaurosis, type 4
Leber congenital amaurosis, type 4 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2003 2003
CUI: C4021570
Disease: Undetectable light- and dark-adapted electroretinogram
Undetectable light- and dark-adapted electroretinogram 		phenotype Finding 11 0.100 None 0
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation 		phenotype Finding 14 0.100 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 2005 2005
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		phenotype Finding 24 1 0.100 None 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 25 2 0.100 None 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		phenotype Finding 26 4 0.100 None 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype Finding 30 2 0.100 None 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.100 None 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		phenotype Finding 41 2 0.100 None 0
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 2004 2017
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.010 None 1.000 1 2014 2014
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 2 2004 2006
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 53 11 0.010 None 1.000 1 2005 2005
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 57 2 0.010 None 1.000 1 2005 2005
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 57 1 0.100 None 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.100 None 1.000 33 2 2000 2018
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.700 strong 1.000 33 5 2000 2019
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.010 None 1.000 1 2001 2001
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.430 moderate 1.000 4 2010 2015
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 93 6 0.100 None 0