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: C2673653
Disease: Cuboid-shaped vertebral bodies
Cuboid-shaped vertebral bodies 		phenotype Finding 2 0.100 None 0
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 4 14 0.670 moderate 0.875 8 2 2013 2020
CUI: C0235864
Disease: Congenital hypertrichosis lanuginosa
Congenital hypertrichosis lanuginosa 		disease Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2015 2015
CUI: C2936812
Disease: Congenital hypertrichosis
Congenital hypertrichosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2015 2015
CUI: C3150852
Disease: EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION 		disease Disease or Syndrome 7 0.010 None 1.000 1 2012 2012
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.300 disputed 1.000 6 2002 2014
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.300 disputed 1.000 6 2002 2014
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 13 0.300 disputed 1.000 6 2002 2014
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 4 0.300 disputed 1.000 6 2002 2014
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 234 0.300 disputed 1.000 6 2002 2014
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 13 0.300 limited 1.000 1 2016 2016
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		phenotype Finding 15 0.100 None 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C1848654
Disease: Broad ribs
Broad ribs 		phenotype Finding 18 0.100 None 0
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 19 17 0.020 None 1.000 2 1 2010 2012
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		phenotype Finding 19 6 0.100 None 0
CUI: C0155707
Disease: Trifascicular block
Trifascicular block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 23 0.100 None 0
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding) 		phenotype Cardiovascular Diseases Finding 23 0.100 None 0
CUI: C1865992
Disease: Short hallux
Short hallux 		phenotype Finding 23 0.100 None 0
CUI: C0030591
Disease: Paroxysmal ventricular tachycardia
Paroxysmal ventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		phenotype Finding 25 0.100 None 0
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2003 2003
CUI: C0085614
Disease: First degree atrioventricular block
First degree atrioventricular block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 26 0.100 None 0
CUI: C3715208
Disease: AV Block First Degree by ECG Finding
AV Block First Degree by ECG Finding 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 28 0.100 None 0
CUI: C0264694
Disease: Chronic myocardial ischemia
Chronic myocardial ischemia 		disease Cardiovascular Diseases Disease or Syndrome 29 7 0.200 None 1.000 1 2002 2002