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: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 96 19 0.110 None 1.000 1 1 2018 2018
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: 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: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.100 None 1.000 11 2003 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 3 3 2012 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 2 2 2012 2013
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 2 2012 2012
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.100 None 1.000 1 1 2009 2009
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		phenotype Musculoskeletal Diseases Pathologic Function 36 15 0.100 None 1.000 1 1 2011 2011
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2018 2018
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 2 2012 2012
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		disease Mental Disorders Mental or Behavioral Dysfunction 33 20 0.100 None 1.000 1 2 2016 2016
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2018 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 1.000 1 1 2016 2016
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.100 None 0
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		phenotype Laboratory or Test Result 17 0.100 None 0
CUI: C0042571
Disease: Vertigo
Vertigo 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.100 None 0
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 15 4 0.100 None 0
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 28 0.100 None 0 1
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		phenotype Finding 17 0.100 None 0
CUI: C4476545
Disease: Dilatation of the ventricular cavity
Dilatation of the ventricular cavity 		phenotype Cardiovascular Diseases Anatomical Abnormality 6 2 0.100 None 0
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		phenotype Finding 18 27 0.100 None 0 2
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		phenotype Finding 17 0.100 None 0