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: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.100 None 1.000 17 11 1995 2013
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 16 3 0.010 None 1.000 1 2010 2010
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: 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: 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.700 strong 1.000 14 3 2002 2020
CUI: C1867299
Disease: Retinitis Pigmentosa 10
Retinitis Pigmentosa 10 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 8 0.720 None 1.000 5 7 2002 2008
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.630 strong 1.000 4 1 2006 2015
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.020 None 0.500 2 2006 2008
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		disease Eye Diseases Disease or Syndrome 136 16 0.020 None 1.000 2 2006 2010
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.020 None 1.000 2 1 2006 2006
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2013 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2013 2013
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2007 2007
CUI: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.010 None 1.000 1 2 2017 2017
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.010 None 1.000 1 1 2015 2015
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 2006 2006
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 32 21 0.010 None 1.000 1 2008 2008
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 2006 2006
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.110 None 1.000 1 2006 2006
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
Deficiency of phosphoglycerate kinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 6 0.010 None 1.000 1 4 2006 2006
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		disease Immune System Diseases Disease or Syndrome 294 49 0.010 None 1.000 1 2 2012 2012
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease 		disease Immune System Diseases Disease or Syndrome 241 17 0.010 None 1.000 1 1 2018 2018