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: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2018 2018
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: 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: C0024437
Disease: Macular degeneration
Macular degeneration
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 44 16 0.010 None 1.000 1 2005 2005
CUI: C0154870
Disease: Focal chorioretinitis
Focal chorioretinitis
disease Eye Diseases Disease or Syndrome 1 0.010 None < 0.001 1 2017 2017
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: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome
disease Disease or Syndrome 25 2 0.030 None 1.000 3 1 2005 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: 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: 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: 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: 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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.100 None 1.000 1 1 2000 2000
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.100 None 1.000 1 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: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.100 None 1.000 1 1 2019 2019
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Eye Diseases Disease or Syndrome 52 59 0.100 None 0 1
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula
phenotype Finding 5 0.100 None 0
Macular dystrophy, concentric annular
phenotype Eye Diseases Finding 6 5 0.100 None 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy
phenotype Finding 25 4 0.100 None 0
Paroxysmal involuntary eye movements
phenotype Finding 39 2 0.100 None 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
phenotype Finding 16 2 0.100 None 0