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 0.110 None 1.000 1 2015 2015
CUI: C0302254
Disease: Juvenile cataract
Juvenile cataract 		disease Eye Diseases Anatomical Abnormality 16 3 0.010 None 1.000 1 2015 2015
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 93 6 0.100 None 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.100 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
CUI: C1860405
Disease: Snowflake vitreoretinal degeneration
Snowflake vitreoretinal degeneration 		disease Eye Diseases Disease or Syndrome 15 1 0.780 None 1.000 8 1 2008 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.650 strong 1.000 7 1 2011 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.040 None 1.000 4 2004 2019
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.040 None 1.000 4 2015 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.120 None 1.000 3 1 2011 2018
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		disease Disease or Syndrome 2 5 0.720 None 1.000 3 5 2011 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.020 None 0.500 2 2011 2019
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.020 None 1.000 2 2015 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.020 None 1.000 2 2016 2017
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 110 29 0.020 None 1.000 2 2017 2017
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		disease Eye Diseases Disease or Syndrome 136 16 0.020 None 1.000 2 2015 2018
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 62 6 0.020 None 1.000 2 2018 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2018 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.010 None < 0.001 1 2019 2019
CUI: C0025048
Disease: Meconium Aspiration Syndrome
Meconium Aspiration Syndrome 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Respiratory Tract Diseases Disease or Syndrome 38 1 0.010 None < 0.001 1 2017 2017
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None < 0.001 1 2019 2019
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.010 None < 0.001 1 2017 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2019 2019
CUI: C0040580
Disease: Tracheal Diseases
Tracheal Diseases 		group Respiratory Tract Diseases Disease or Syndrome 155 1 0.010 None 1.000 1 2018 2018
CUI: C0155366
Disease: Vitreous degeneration
Vitreous degeneration 		disease Eye Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1 2013 2013