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: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2017 2017
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2018 2018
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: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2018 2018
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.010 None < 0.001 1 2007 2007
CUI: C0040100
Disease: Thymoma
Thymoma
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.010 None 1.000 1 1998 1998
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 14 0.010 None 1.000 1 2017 2017
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: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
Cyclical vomiting syndrome (disorder)
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 28 4 0.010 None 1.000 1 2015 2015
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2017 2017
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 160 6 0.010 None 1.000 1 2001 2001
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia
disease Infections; Nervous System Diseases Disease or Syndrome 25 16 0.010 None 1.000 1 2018 2018
CUI: C0232197
Disease: Fibrillation
Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 118 8 0.010 None 1.000 1 1 2015 2015
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2018 2018
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.010 None 1.000 1 2013 2013
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.010 None 1.000 1 2019 2019
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 40 10 0.010 None 1.000 1 2018 2018
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2019 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2012 2012
CUI: C0340278
Disease: Atrial hypertrophy
Atrial hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 420 12 0.300 None 1.000 1 2016 2016
CUI: C0348617
Disease: Other cardiomyopathies
Other cardiomyopathies
disease Cardiovascular Diseases Disease or Syndrome 4 0.200 None 1.000 1 2006 2006
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 57 2 0.010 None 1.000 1 2017 2017
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