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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 3 2018 2018
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.100 None 1.000 2 1 2019 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: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
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: 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: 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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.060 None 1.000 6 2001 2018
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		disease Neoplasms Neoplastic Process 385 8 0.050 None 1.000 5 2009 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.040 None 1.000 4 2007 2019
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: C0012546
Disease: Diphtheria
Diphtheria 		disease Infections Disease or Syndrome 147 0.040 None 1.000 4 2007 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.040 None 1.000 4 2009 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.040 None 1.000 4 2017 2019
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: C0021400
Disease: Influenza
Influenza 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.030 None 1.000 3 2007 2019
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.030 None 1.000 3 2017 2018
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.030 None 1.000 3 2018 2019
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 23 2 0.030 None 1.000 3 2000 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2017 2019
CUI: C0011334
Disease: Dental caries
Dental caries 		disease Stomatognathic Diseases Disease or Syndrome 330 126 0.030 None 1.000 3 1986 2017
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: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.020 None 1.000 2 2017 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.020 None 1.000 2 2016 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2003 2011