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: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Eye Diseases Disease or Syndrome 52 59 0.100 None 0 1
Attenuation of retinal blood vessels
phenotype Finding 41 2 0.100 None 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding)
phenotype Finding 25 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: 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: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
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: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 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
Paroxysmal involuntary eye movements
phenotype Finding 39 2 0.100 None 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy
phenotype Finding 25 4 0.100 None 0
Macular dystrophy, concentric annular
phenotype Eye Diseases Finding 6 5 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
phenotype Finding 158 10 0.100 None 0 1
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C3549703
Disease: Retinal thinning
Retinal thinning
phenotype Finding 11 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 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: C0015310
Disease: Exotropia
Exotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 78 23 0.100 None 0
CUI: C0020490
Disease: Hyperopia
Hyperopia
disease Eye Diseases Disease or Syndrome 142 29 0.100 None 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology
disease Anatomical Abnormality 5 0.100 None 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0 1
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula
phenotype Finding 11 0.100 None 0