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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 0 1
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.080 None 0.875 8 3 2007 2019
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 2 0.020 None 1.000 2 2000 2001
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.020 None 1.000 2 2 2000 2010
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 21 1.000 None 0.974 38 18 2000 2019
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.650 None 1.000 19 2 2000 2017
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 6 0.700 limited 1.000 17 6 2000 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.480 strong 1.000 9 7 2007 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.050 None 1.000 5 2007 2017
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 0.130 None 1.000 3 2009 2019
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		disease Eye Diseases Disease or Syndrome 136 16 0.020 None 1.000 2 2014 2019
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.020 None 1.000 2 2017 2018
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2015 2015
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.010 None 1.000 1 2020 2020
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2015 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2015 2015
CUI: C0024440
Disease: Macular Edema, Cystoid
Macular Edema, Cystoid 		disease Eye Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2011 2011
CUI: C0026936
Disease: Mycoplasma Infections
Mycoplasma Infections 		group Infections Disease or Syndrome 188 1 0.010 None 1.000 1 2018 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2015 2015
CUI: C0034931
Disease: Reflex Sympathetic Dystrophy
Reflex Sympathetic Dystrophy 		disease Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 26 63 0.010 None 1.000 1 2002 2002
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2014 2014
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 45 24 0.010 None 1.000 1 2010 2010