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: C0201925
Disease: Calcium measurement
Calcium measurement 		phenotype Laboratory Procedure 23 71 0.100 None 1.000 1 1 2018 2018
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		phenotype Eye Diseases Finding 24 0.300 None 1.000 1 2004 2004
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 24 35 0.010 None 1.000 1 1985 1985
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		disease Eye Diseases Disease or Syndrome 28 0.300 None 1.000 1 2004 2004
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		phenotype Diagnostic Procedure 35 81 0.100 None 1.000 2 2 2009 2018
CUI: C0745130
Disease: Resistant hypertensive disorder
Resistant hypertensive disorder 		disease Cardiovascular Diseases Disease or Syndrome 47 14 0.010 None 1.000 1 1 2014 2014
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		phenotype Diagnostic Procedure 54 95 0.100 None 1.000 3 3 2009 2018
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2016 2016
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		phenotype Finding 89 111 0.100 None 1.000 1 1 2016 2016
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.010 None 1.000 1 2018 2018
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		phenotype Organism Function 109 220 0.100 None 1.000 4 4 2011 2013
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		phenotype Finding 146 344 0.100 None 1.000 8 10 2011 2018
CUI: C0041234
Disease: Chagas Disease
Chagas Disease 		disease Infections Disease or Syndrome 202 10 0.010 None 1.000 1 2020 2020
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 5 2018 2018
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.050 None 0.800 5 1 1997 2019
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.010 None 1.000 1 2018 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2016 2016
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 13 11 2009 2018
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2002 2002
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.010 None 1.000 1 2018 2018
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 2002 2002
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2016 2016
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2016 2016
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2002 2002