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.
Amputated structure (morphologic abnormality)
phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2017 2017
CUI: C0333293
Disease: Healing ulcer
Healing ulcer
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 1 0.010 None 1.000 1 2017 2017
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2012 2012
QT interval feature (observable entity)
phenotype Clinical Attribute 75 226 0.100 None 1.000 10 28 2006 2019
Congenital arteriovenous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.010 None 1.000 1 2016 2016
Arteriovenous Malformations, Cerebral
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 35 6 0.010 None 1.000 1 2016 2016
CUI: C1623258
Disease: Electrocardiography
Electrocardiography
phenotype Diagnostic Procedure 8 16 0.100 None 1.000 1 1 2010 2010
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.090 None 1.000 9 3 2008 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.050 None 1.000 5 1 2009 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.040 None 0.750 4 1 2008 2017
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.030 None 1.000 3 2008 2010
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.030 None 1.000 3 2009 2013
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.030 None 1.000 3 2009 2013
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.030 None 1.000 3 1 2011 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.030 None 1.000 3 1 2011 2014
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.030 None 0.667 3 1 2010 2017
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.030 None 1.000 3 2015 2019
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 30 54 0.030 None 0.667 3 2009 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.030 None 1.000 3 1 2011 2014
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.210 None 1.000 2 2011 2014
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 22 17 0.300 None 1.000 2 2009 2010
CUI: C0741923
Disease: cardiac event
cardiac event
phenotype Disease or Syndrome 82 18 0.020 None 1.000 2 1 2010 2015
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 345 10 0.010 None 1.000 1 2016 2016
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.010 None 1.000 1 2015 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 1 2013 2013