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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 17 36 0.500 None 0.960 1 1 2009 2018
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer
disease Digestive System Diseases Disease or Syndrome 7 23 0.430 None 1.000 1 2 1979 2013
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 36 147 0.200 None 0.958 4 42 2005 2019
CUI: C0024530
Disease: Malaria
Malaria
disease Infections Disease or Syndrome 13 44 0.200 None 0.923 2 11 2007 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 166 388 0.200 None 0.938 1 1 1980 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 125 534 0.150 None 1.000 1 1 1989 2019
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 89 168 0.130 None 0.500 1 1 2010 2019
CUI: C0018213
Disease: Graves Disease
Graves Disease
disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 37 93 0.110 None 1.000 1 1 2013 2013
Activated Partial Thromboplastin Time measurement
phenotype Laboratory Procedure 13 33 0.100 None 1.000 2 2 2012 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 278 652 0.100 None 1.000 2 3 2012 2019
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
phenotype Laboratory Procedure 32 367 0.100 None 1.000 1 51 2010 2019
CUI: C1287351
Disease: Finding of liver enzyme levels
Finding of liver enzyme levels
phenotype Laboratory or Test Result 7 10 0.100 None 1.000 1 1 2008 2008
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
phenotype Laboratory Procedure 39 568 0.100 None 1.000 1 10 2011 2011
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement
phenotype Laboratory Procedure 3 8 0.100 None 1.000 1 3 2013 2013
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 426 3265 0.100 None 1.000 1 11 2013 2013
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
phenotype Finding 52 48 0.100 None 1.000 1 1 2011 2011
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 23 218 0.100 None 1.000 1 97 2012 2012
CUI: C0162701
Disease: Polysomnography
Polysomnography
phenotype Diagnostic Procedure 117 247 0.100 None 1.000 1 5 2012 2012
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
phenotype Laboratory Procedure 58 436 0.100 None 1.000 1 12 2012 2018
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2019
CUI: C0202202
Disease: Protein measurement
Protein measurement
group Laboratory Procedure 14 350 0.100 None 1.000 1 35 2012 2012
Thyroid stimulating hormone measurement
phenotype Laboratory Procedure 21 33 0.100 None 1.000 1 1 2013 2015
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 52 48 0.100 None 1.000 1 1 2011 2011
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme
phenotype Laboratory Procedure 7 10 0.100 None 1.000 1 1 2008 2008