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: C0154870
Disease: Focal chorioretinitis
Focal chorioretinitis 		disease Eye Diseases Disease or Syndrome 1 0.010 None < 0.001 1 2017 2017
CUI: C4021559
Disease: Retinitis pigmentosa inversa
Retinitis pigmentosa inversa 		disease Eye Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0155018
Disease: Color Blindness, Acquired
Color Blindness, Acquired 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 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: 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: C4282180
Disease: Juvenile macular degeneration
Juvenile macular degeneration 		disease Disease or Syndrome 5 0.510 strong < 0.001 1 2005 2005
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula 		phenotype Finding 5 0.100 None 0
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: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		phenotype Eye Diseases Finding 6 5 0.100 None 0
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: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 7 1 0.100 None 0
CUI: C4024799
Disease: Granular macular appearance
Granular macular appearance 		phenotype Finding 8 0.100 None 0
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 9 1 0.300 None 1.000 1 2018 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: C3549703
Disease: Retinal thinning
Retinal thinning 		phenotype Finding 11 0.100 None 0
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula 		phenotype Finding 11 0.100 None 0
CUI: C0877104
Disease: Retinal toxicity
Retinal toxicity 		disease Anatomical Abnormality 12 0.010 None 1.000 1 2017 2017
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		disease Anatomical Abnormality 12 1 0.100 None 0
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: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		phenotype Finding 16 2 0.100 None 0
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		disease Disease or Syndrome 19 1 0.100 None 0
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: 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