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: C3888153
Disease: LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4016248
Disease: LONG QT SYNDROME, BRADYCARDIA-INDUCED
LONG QT SYNDROME, BRADYCARDIA-INDUCED 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2931401
Disease: Long QT syndrome type 3
Long QT syndrome type 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 2 3 0.010 None 1.000 1 2012 2012
CUI: C3276240
Disease: LONG QT SYNDROME 2/3, DIGENIC
LONG QT SYNDROME 2/3, DIGENIC 		disease Disease or Syndrome 2 2 0.100 None 0 1
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: C3279093
Disease: LONG QT SYNDROME 2/9, DIGENIC
LONG QT SYNDROME 2/9, DIGENIC 		disease Disease or Syndrome 2 2 0.100 None 0 1
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 9 0.200 None 1.000 1 2003 2003
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 9 0.200 None 1.000 1 2003 2003
CUI: C4053736
Disease: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 		disease Disease or Syndrome 3 16 0.010 None 1.000 1 2018 2018
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: C0340464
Disease: Premature Cardiac Complex
Premature Cardiac Complex 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2006 2006
CUI: C3698186
Disease: Cardiac channelopathy
Cardiac channelopathy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 7 157 0.100 None 1.000 10 2001 2019
CUI: C3805040
Disease: Phospholipidosis
Phospholipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
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
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: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 15 0.020 None 1.000 2 2009 2010
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: C0151879
Disease: Shortened QT interval
Shortened QT interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 13 0.400 strong 1.000 1 2017 2017
CUI: C0586354
Disease: Esophageal dysplasia
Esophageal dysplasia 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 13 2 0.010 None 1.000 1 2016 2016
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: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 15 0.300 None 1.000 1 2006 2006
CUI: C4477077
Disease: Abnormal cardiac exercise stress test
Abnormal cardiac exercise stress test 		phenotype Finding 16 0.100 None 0
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: 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