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: 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 0.800 None 0.987 76 27 2001 2019
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 9 0.740 strong 1.000 34 9 2001 2017
CUI: C3151431
Disease: ATRIAL FIBRILLATION, FAMILIAL, 9
ATRIAL FIBRILLATION, FAMILIAL, 9
disease Disease or Syndrome 1 2 0.700 strong 1.000 4 2 2002 2016
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.470 strong 1.000 8 2 2005 2019
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 10 0.400 None 1.000 11 1 2002 2015
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 13 0.400 strong 1.000 1 2015 2015
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.400 strong 1.000 1 2002 2002
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 11 0.390 None 1.000 10 1 2002 2015
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.370 None 1.000 9 3 2004 2017
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 31 121 0.360 None 1.000 7 2 2009 2019
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.320 None 1.000 3 1 2004 2007
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 22 1 0.300 None 1.000 1 2005 2005
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.300 None 1.000 1 2006 2006
CUI: C0751852
Disease: Arsenic Induced Polyneuropathy
Arsenic Induced Polyneuropathy
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C0751851
Disease: Arsenic Encephalopathy
Arsenic Encephalopathy
disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 62 0.300 None 1.000 1 2006 2006
Nervous System, Organic Arsenic Poisoning
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 4 6 0.300 None 1.000 1 2005 2005
CUI: C0311375
Disease: Arsenic Poisoning
Arsenic Poisoning
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 64 0.300 None 1.000 1 2006 2006
Hypokalemic Periodic Paralysis, Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 15 0.300 None 1.000 1 2005 2005
CUI: C0274861
Disease: Arsenic Poisoning, Inorganic
Arsenic Poisoning, Inorganic
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 62 0.300 None 1.000 1 2006 2006
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 1.000 1 2013 2013
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 96 19 0.120 None 1.000 2 1 2012 2012
CUI: C0039070
Disease: Syncope
Syncope
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.110 None 1.000 1 1 2003 2003
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.100 None 1.000 10 2 2002 2015
CUI: C1844509
Disease: Antegonial notching of mandible
Antegonial notching of mandible
phenotype Finding 3 1 0.100 None 0