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: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 124 37 0.800 0.867 18 3 2006 2017
CUI: C1842778
Disease: Atrial septal defect 2
Atrial septal defect 2
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality; Disease or Syndrome 1 7 0.800 8 7 2003 2016
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
disease Disease or Syndrome 1 1 0.600 1 1 2011 2011
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.510 1.000 3 2010 2016
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 225 20 0.500 0.941 17 1 2007 2018
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 63 2 0.500 2 2007 2008
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
phenotype Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 25 2 0.410 1.000 1 2017 2017
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 164 18 0.400 0.875 18 3 2004 2018
CUI: C3280777
Disease: VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 1
disease Congenital Abnormality; Disease or Syndrome 1 7 0.400 5 7 2008 2012
CUI: C3280781
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 4
disease Congenital Abnormality; Disease or Syndrome 1 2 0.400 3 2 2008 2011
CUI: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 8 0.400 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 10 0.360 1.000 7 1 2008 2014
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 423 323 0.330 1.000 3 1 2012 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.320 1.000 2 2003 2009
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.320 1.000 2 2003 2009
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.310 2 2003 2009
Ostium secundum atrial septal defect
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 3 0.310 1.000 1 1 2011 2011
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.300 0.941 18 1 1999 2018
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 158 0.300 2 2006 2008
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 77 8 0.300 2 2006 2008
Congenital hernia of foramen of Morgagni
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Congenital Abnormality 17 0.300 1 2013 2013
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 87 112 0.300 1 2012 2012
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 106 106 0.300 1 2012 2012
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 60 0.300 limited 1 2011 2011
Congenital hernia of foramen of Bochdalek
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Congenital Abnormality 17 0.300 1 2013 2013