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: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 267 0.800 None 0.989 87 262 1995 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 0.500 None 0.990 301 138 1995 2020
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.500 None 1.000 78 29 1995 2020
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.700 strong 1.000 17 15 2005 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 0.200 None 0.973 74 13 1996 2019
CUI: C0039070
Disease: Syncope
Syncope 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.200 None 1.000 16 9 2000 2019
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 4 6 0.920 None 1.000 12 6 1995 2018
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.090 None 1.000 9 6 2004 2019
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 14 0.500 None 0.968 31 5 1995 2019
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 20 240 0.180 None 1.000 11 5 2004 2018
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		phenotype Clinical Attribute 75 226 0.100 None 1.000 5 5 2010 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.020 None 1.000 2 5 2012 2020
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
Ventricular tachycardia, polymorphic 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 11 0.040 None 1.000 4 4 2004 2019
CUI: C2732979
Disease: Acquired long QT syndrome
Acquired long QT syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 14 8 0.100 None 1.000 11 3 2002 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.050 None 1.000 5 3 2008 2018
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.040 None 1.000 4 3 2005 2014
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 23 38 0.030 None 1.000 3 3 2006 2016
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 411 50 0.420 strong 1.000 3 3 2002 2017
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 11 0.010 None 1.000 1 3 2017 2017
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.010 None 1.000 1 3 2017 2017
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		disease Neoplasms Neoplastic Process 215 6 0.010 None 1.000 1 3 2015 2015
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 10 0.010 None 1.000 1 3 2017 2017
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 3 2017 2017
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		disease Disease or Syndrome 2 6 0.100 None 0 3
CUI: C2348199
Disease: Short Qt Syndrome
Short Qt Syndrome 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 10 5 0.100 None 1.000 18 2 2004 2019