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: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality; Disease or Syndrome 1 3 0.600 2 3 2007 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
Ostium secundum atrial septal defect
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 3 0.300 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 418 387 0.230 1.000 3 2009 2017
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE
phenotype Finding 52 110 0.100 1 1 2017 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 980 861 0.100 1 1 2018 2018
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group Congenital Abnormality 121 46 0.050 1.000 5 2007 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 912 760 0.030 1.000 3 4 2007 2017
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 324 26 0.030 1.000 3 2007 2012
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 124 37 0.020 1.000 2 2008 2012
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 387 121 0.020 1.000 2 2016 2016
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.020 1.000 2 2010 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 479 108 0.010 1.000 1 2007 2007
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 115 20 0.010 1.000 1 2018 2018
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 75 18 0.010 1.000 1 2016 2016
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 36 7 0.010 1.000 1 2018 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.010 1.000 1 2014 2014
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 225 20 0.010 < 0.001 1 2008 2008
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 164 18 0.010 1.000 1 2010 2010
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1133 131 0.010 1.000 1 2014 2014
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1086 121 0.010 1.000 1 2014 2014