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: C4015342
Disease: MACULAR DYSTROPHY, VITELLIFORM, 4
MACULAR DYSTROPHY, VITELLIFORM, 4
disease Disease or Syndrome 1 4 0.600 strong 1.000 1 4 2013 2013
Adult-Onset Vitelliform Macular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 16 0.500 None 1.000 1 2013 2013
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 74 120 0.330 None 1.000 3 1 2013 2014
Juvenile-Onset Vitelliform Macular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.300 None 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.120 None 1.000 2 1998 2013
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Eye Diseases Disease or Syndrome 52 59 0.120 None 1.000 2 1 1998 2013
CUI: C1260959
Disease: Drusen
Drusen
disease Disease or Syndrome 57 18 0.110 None 1.000 1 2007 2007
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2018 2018
CUI: C3887875
Disease: Visual field defects
Visual field defects
group Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 47 1 0.100 None 0
CUI: C4021563
Disease: Retinal nonattachment
Retinal nonattachment
disease Eye Diseases Congenital Abnormality 7 0.100 None 0
CUI: C4024817
Disease: Vitelliform-like macular lesions
Vitelliform-like macular lesions
phenotype Finding 4 0.100 None 0
CUI: C0008525
Disease: Choroideremia
Choroideremia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 41 15 0.100 None 0
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration
phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
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 0.100 None 0
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy
disease Congenital Abnormality 39 10 0.020 None 1.000 2 1998 2013
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2001 2001
CUI: C0042798
Disease: Low Vision
Low Vision
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.010 None 1.000 1 2014 2014
CUI: C0730294
Disease: North Carolina macular dystrophy
North Carolina macular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 1998 1998
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease Eye Diseases Disease or Syndrome 83 109 0.010 None 1.000 1 2001 2001
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3
disease Eye Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 1998 1998
CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 1998 1998
Benign concentric annular macular dystrophy
disease Disease or Syndrome 3 0.010 None 1.000 1 2004 2004