RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
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: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0.971 69 6 2002 2020
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.200 None 1.000 28 7 2002 2019
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.700 None 1.000 28 1 2002 2019
CUI: C0039070
Disease: Syncope
Syncope 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.150 None 1.000 5 2002 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.040 None 1.000 4 2002 2017
CUI: C2677794
Disease: Stress-induced polymorphic ventricular tachycardia
Stress-induced polymorphic ventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 5 9 0.420 None 1.000 4 2 2002 2015
CUI: C0340486
Disease: Induced ventricular tachycardia
Induced ventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 0.030 None 1.000 3 2002 2011
CUI: C0086209
Disease: Emotional Stress
Emotional Stress 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 25 1 0.020 None 1.000 2 2002 2006
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 18 5 0.120 None 1.000 2 2 2002 2014
CUI: C0011071
Disease: Sudden death
Sudden death 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 30 3 0.120 None 1.000 2 2002 2006
CUI: C2930902
Disease: Bidirectional tachycardia
Bidirectional tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 2 1 0.020 None 1.000 2 2002 2013
CUI: C0741923
Disease: cardiac event
cardiac event 		phenotype Disease or Syndrome 82 18 0.010 None 1.000 1 2002 2002
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.100 None 1.000 11 2003 2019
CUI: C0264716
Disease: Chronic heart failure
Chronic heart failure 		disease Cardiovascular Diseases Disease or Syndrome 223 11 0.020 None 1.000 2 2003 2010
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 0.020 None 1.000 2 2004 2006
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.100 None 1.000 17 2 2005 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 0.400 None 1.000 12 2005 2018
CUI: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.300 None 1.000 1 2005 2005
CUI: C0080203
Disease: Tachyarrhythmia
Tachyarrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 18 0.300 None 1.000 1 2005 2005
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		phenotype Disease or Syndrome 42 5 0.040 None 1.000 4 2006 2019
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 220 1 0.300 None 1.000 1 2006 2006
CUI: C0348617
Disease: Other cardiomyopathies
Other cardiomyopathies 		disease Cardiovascular Diseases Disease or Syndrome 4 0.200 None 1.000 1 2006 2006
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.050 None 1.000 5 2007 2019
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.040 None 1.000 4 1 2007 2018