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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.010 None 1.000 1 2003 2003
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 354 33 0.010 None 1.000 1 1 2007 2007
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 1 2018 2018
CUI: C0391958
Disease: Familial Epilepsies
Familial Epilepsies
disease Nervous System Diseases Disease or Syndrome 16 2 0.010 None 1.000 1 2014 2014
CUI: C3889476
Disease: Benign Familial Convulsion
Benign Familial Convulsion
disease Nervous System Diseases Disease or Syndrome 9 7 0.010 None 1.000 1 2006 2006
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.010 None 1.000 1 2019 2019
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Nervous System Diseases Finding 227 27 0.100 None 0
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.200 None 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures
disease Nervous System Diseases Disease or Syndrome 12 1 0.100 None 0
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures
phenotype Nervous System Diseases Finding 5 0.100 None 0
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.200 None 1.000 1 2012 2012
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.300 None 1.000 1 2012 2012
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 9 0.010 None 1.000 1 2006 2006
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.300 disputed 1.000 7 2008 2017
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.300 disputed 1.000 7 2008 2017
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder)
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 40 7 0.300 disputed 1.000 7 2008 2017
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 13 0.300 disputed 1.000 7 2008 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.040 None 1.000 4 2 2009 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.130 None 1.000 3 2008 2014
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 22 1 0.300 None 1.000 1 2009 2009
Hereditary bundle branch system defect
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 16 0.300 None 1.000 1 2008 2008
CUI: C2721586
Disease: Sudden arrhythmic death syndrome
Sudden arrhythmic death syndrome
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0006384
Disease: Bundle-Branch Block
Bundle-Branch Block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 7 0.100 None 0