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: 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: 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: C0344432
Disease: Ventricular tachycardia, polymorphic
Ventricular tachycardia, polymorphic 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 11 0.020 None 1.000 2 2012 2015
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.020 None 1.000 2 1 2014 2019
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: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Fibrillation, Paroxysmal Familial, 1 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 42 8 0.020 None 1.000 2 2014 2014
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: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.010 None 1.000 1 2019 2019
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2013 2013
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2 2019 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2016 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2015 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2015 2015
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2012 2012
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2007 2007
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2015 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2015 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2019 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 411 50 0.010 None 1.000 1 1 2011 2011
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.010 None 1.000 1 2019 2019
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 1 2015 2015
CUI: C0024232
Disease: Lymphatic Metastasis
Lymphatic Metastasis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 463 10 0.010 None 1.000 1 2019 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2007 2007
CUI: C0027121
Disease: Myositis
Myositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.010 None 1.000 1 2017 2017
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