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: C1849792
Disease: Achromatopsia 3
Achromatopsia 3
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 51 0.830 1.000 21 51 1993 2018
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease Eye Diseases Disease or Syndrome 13 292 0.610 < 0.001 1 1 2006 2006
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype Eye Diseases Disease or Syndrome 6 179 0.600 1 1 2006 2006
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 20 0.500 1.000 28 5 2000 2018
CUI: C4282180
Disease: Juvenile macular degeneration
Juvenile macular degeneration
disease Eye Diseases Disease or Syndrome 3 176 0.500 1 1 2006 2006
Retinal Dystrophy, Early Onset Severe
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 178 0.300 1 1 2006 2006
Progressive cone dystrophy (without rod involvement)
disease Disease or Syndrome 4 0.300 0
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 7 0.200 1.000 27 2 2000 2018
CUI: C0009398
Disease: Color vision defect
Color vision defect
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 48 2 0.120 2 2004 2007
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
disease Disease or Syndrome 61 15 0.110 1.000 1 2006 2006
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease Eye Diseases Disease or Syndrome 61 38 0.100 2 1 2000 2017
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 37 15 0.100 1 2 2017 2017
Flattened or absent electroretinogram (ERG)
phenotype Finding 2 3 0.100 1 1 2015 2015
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 0.100 1 1 2015 2015
CUI: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 0.100 0
CUI: C3549703
Disease: Retinal thinning
Retinal thinning
phenotype Finding 9 0.100 0
CUI: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus
disease Disease or Syndrome 2 0.100 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 166 0.100 0
CUI: C4025849
Disease: Abnormality of the fovea
Abnormality of the fovea
phenotype Anatomical Abnormality 6 0.100 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
phenotype Finding 9 0.100 0
CUI: C1857618
Disease: Achromatopsia 2
Achromatopsia 2
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 35 0.100 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype Finding 28 0.100 0
CUI: C3552853
Disease: Color vision defect, severe
Color vision defect, severe
phenotype Finding 41 0.100 0
Blind spot located at fixation point
phenotype Finding 25 0.100 0
CUI: C4020885
Disease: Difficulties with night vision
Difficulties with night vision
phenotype Finding 125 0.100 0