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: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 20 14 0.100 None 0.971 34 2000 2020
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 106 0.930 None 1.000 27 106 2000 2018
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 7 2 0.050 None 1.000 5 1 2004 2018
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		disease Disease or Syndrome 25 2 0.030 None 1.000 3 1 2005 2018
CUI: C0009398
Disease: Color vision defect
Color vision defect 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.420 None 1.000 3 2004 2018
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 16 9 0.120 None 1.000 2 1 2014 2018
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.100 None 1.000 2 3 2000 2019
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.020 None 1.000 2 1 2017 2018
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		disease Eye Diseases Disease or Syndrome 9 6 0.300 None 1.000 1 2004 2004
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.110 None 1.000 1 2005 2005
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 45 24 0.500 None 1.000 1 2005 2005
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.100 None 1.000 1 1 2019 2019
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		group Eye Diseases Disease or Syndrome 49 24 0.010 None 1.000 1 2007 2007
CUI: C0751042
Disease: Color Blindness, Inherited
Color Blindness, Inherited 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2018 2018
CUI: C0751043
Disease: Monochromatopsia
Monochromatopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2018 2018
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.100 None 1.000 1 1 2000 2000
CUI: C0877104
Disease: Retinal toxicity
Retinal toxicity 		disease Anatomical Abnormality 12 0.010 None 1.000 1 2017 2017
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2007 2007
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease Disease or Syndrome 23 317 0.700 None 1.000 1 2 2005 2005
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 1.000 1 3 2000 2000
CUI: C0242225
Disease: Color blindness
Color blindness 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.300 None 1.000 1 2018 2018
CUI: C0239777
Disease: Color Blindness, Green
Color Blindness, Green 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2018 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.100 None 1.000 1 1 2019 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2018 2018