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: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 13 0.010 None 1.000 1 1985 1985
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 0.030 None 1.000 3 1979 2004
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome 		disease Wounds and Injuries Disease or Syndrome 54 8 0.010 None 1.000 1 2017 2017
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.070 None 1.000 7 1991 2019
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 56 42 0.020 None 0.500 2 1 2008 2009
CUI: C1262211
Disease: Diarrhoea predominant irritable bowel syndrome
Diarrhoea predominant irritable bowel syndrome 		disease Disease or Syndrome 57 8 0.010 None 1.000 1 2014 2014
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 57 23 0.010 None 1.000 1 2000 2000
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.010 None 1.000 1 2002 2002
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 66 14 0.010 None < 0.001 1 1994 1994
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 79 14 0.040 None 1.000 4 2018 2020
CUI: C1568272
Disease: Tendinopathy
Tendinopathy 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 80 16 0.040 None 1.000 4 2018 2020
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 82 8 0.010 None 1.000 1 2019 2019
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 91 743 0.010 None 1.000 1 2018 2018
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 0.010 None 1.000 1 1997 1997
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 106 33 0.020 None 1.000 2 2007 2017
CUI: C1456868
Disease: Diabetic foot ulcer
Diabetic foot ulcer 		disease Skin and Connective Tissue Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 107 17 0.010 None 1.000 1 2019 2019
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 110 7 0.010 None 1.000 1 2008 2008
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 112 107 0.010 None 1.000 1 2018 2018
CUI: C0232197
Disease: Fibrillation
Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 118 8 0.010 None 1.000 1 2016 2016
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 137 52 0.100 None 1.000 10 1994 2010
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 143 295 0.010 None 1.000 1 2019 2019
CUI: C0012546
Disease: Diphtheria
Diphtheria 		disease Infections Disease or Syndrome 147 0.040 None 1.000 4 2007 2019
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		group Infections; Nervous System Diseases Disease or Syndrome 175 67 0.100 None 1.000 18 1989 2013
CUI: C0025289
Disease: Meningitis
Meningitis 		disease Nervous System Diseases Disease or Syndrome 191 13 0.010 None 1.000 1 2019 2019
CUI: C0039103
Disease: Synovitis
Synovitis 		disease Musculoskeletal Diseases Disease or Syndrome 197 0.010 None 1.000 1 2020 2020