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: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 13 2012 2012
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.500 definitive 1.000 43 10 1995 2019
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 9 0.700 None 1.000 9 9 1977 2018
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 48 22 0.800 None 1.000 18 6 1977 2016
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 8 6 2016 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 5 2013 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 5 2013 2013
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 1 4 0.700 None 1.000 17 4 1977 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.500 None 1.000 14 4 2003 2018
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		phenotype Laboratory Procedure 131 224 0.100 None 1.000 4 4 2009 2017
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 233 90 0.100 None 1.000 13 3 2001 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 4 3 2016 2019
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		phenotype Laboratory Procedure 124 243 0.100 None 1.000 3 3 2016 2019
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.200 None 1.000 11 2 2001 2017
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 20 2 0.150 None 1.000 5 2 2001 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.110 None 1.000 3 2 2010 2019
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		phenotype Laboratory Procedure 138 216 0.100 None 1.000 3 2 2009 2017
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 3 2 2009 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.110 None 1.000 3 2 2010 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.100 None 1.000 3 2 2010 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.120 None 1.000 3 2 2010 2019
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		phenotype Laboratory Procedure 90 174 0.100 None 1.000 2 2 2017 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 2 2 2013 2019
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.120 None 1.000 2 2 2001 2003
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.010 None 1.000 1 2 2010 2010