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 0.050 None 0.800 5 2008 2018
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.020 None 1.000 2 2008 2008
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.020 None 1.000 2 2011 2017
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease Disease or Syndrome 23 317 0.010 None 1.000 1 2012 2012
CUI: C0333641
Disease: Atrophic
Atrophic
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 58 1 0.010 None 1.000 1 2008 2008
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2018 2018
CUI: C1720452
Disease: Soft drusen
Soft drusen
disease Disease or Syndrome 10 5 0.010 None 1.000 1 2014 2014
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 5 0.010 None 1.000 1 2012 2012
Chronic central serous chorioretinopathy
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 13 5 0.010 None 1.000 1 2015 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2010 2010
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None < 0.001 1 2014 2014
CUI: C0035312
Disease: Retinal Drusen
Retinal Drusen
disease Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2012 2012
Wet age-related macular degeneration
disease Disease or Syndrome 20 2 0.010 None 1.000 1 2012 2012
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.010 None 1.000 1 2008 2008
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.010 None 1.000 1 2009 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2011 2011
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 2010 2010
MACULAR DEGENERATION, AGE-RELATED, 8
disease Disease or Syndrome 1 0.300 None 0
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen
disease Disease or Syndrome 10 10 0.080 None 0.875 8 1 2013 2019
CUI: C2609315
Disease: Retinal angiomatous proliferation
Retinal angiomatous proliferation
disease Disease or Syndrome 12 4 0.060 None 1.000 6 1 2010 2017
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.030 None 1.000 3 1 2008 2018
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy
disease Acquired Abnormality 7 2 0.030 None 0.667 3 1 2014 2017
Choroidal vascular hyperpermeability
phenotype Anatomical Abnormality 5 3 0.020 None 1.000 2 1 2014 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 1 2012 2018
Retinal Pigment Epithelial Detachment
disease Eye Diseases Disease or Syndrome 17 3 0.020 None 1.000 2 1 2011 2017