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: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.320 1.000 3 1998 2013
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 124 37 0.310 1.000 2 2015 2016
CUI: C0678807
Disease: prenatal alcohol exposure
prenatal alcohol exposure
phenotype Finding 5 0.300 1.000 1 2014 2014
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 29 0.300 1 2017 2017
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 65 2 0.300 1 2017 2017
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 29 0.300 1 2017 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 287 216 0.300 1 2017 2017
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group Anatomical Abnormality 30 1 0.020 1.000 2 2005 2013
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 31 0.020 1.000 2 2006 2008
CUI: C0041107
Disease: Trisomy
Trisomy
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 208 1 0.020 1.000 2 2013 2015
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
group Congenital Abnormality 121 46 0.020 1.000 2 1999 2015
CUI: C0741916
Disease: Cardiac defects
Cardiac defects
group Disease or Syndrome 56 4 0.010 1.000 1 1999 1999
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 479 108 0.010 < 0.001 1 2002 2002
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
disease Disease or Syndrome 30 223 0.010 1.000 1 2003 2003
Isolated hypoplasia of the right ventricle
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality; Disease or Syndrome 4 0.010 1.000 1 1999 1999
CUI: C1883486
Disease: Uterine Corpus Cancer
Uterine Corpus Cancer
disease Neoplastic Process 578 106 0.010 1.000 1 2014 2014
CUI: C2931559
Disease: Chromosome 4q- Syndrome
Chromosome 4q- Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.010 1.000 1 2003 2003
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome 21 2 0.010 1.000 1 2002 2002
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 606 30 0.010 1.000 1 2011 2011
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 839 145 0.010 1.000 1 2014 2014
CUI: C0280255
Disease: stage, endometrial cancer
stage, endometrial cancer
phenotype Neoplastic Process 9 1 0.010 1.000 1 2014 2014
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplastic Process 576 106 0.010 1.000 1 2014 2014
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 496 16 0.010 1.000 1 2013 2013
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 814 91 0.010 1.000 1 2014 2014
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 883 65 0.010 1.000 1 2014 2014