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: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 20 240 1.000 None 0.990 104 227 1996 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.700 None 0.980 354 126 1993 2020
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.500 None 0.972 106 27 2008 2019
Jervell And Lange-Nielsen Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 4 23 0.700 None 1.000 11 23 1996 2018
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 30 54 0.200 None 0.990 101 18 1996 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.200 None 0.982 56 12 1994 2020
CUI: C0039070
Disease: Syncope
Syncope
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.200 None 0.958 24 12 2001 2019
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 15 1.000 definitive 1.000 61 11 1997 2019
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 3
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 10 0.700 None 1.000 3 10 1996 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.200 None 1.000 36 9 1999 2020
QT interval feature (observable entity)
phenotype Clinical Attribute 75 226 0.100 None 1.000 8 9 2009 2019
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
SHORT QT SYNDROME 2 (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 9 0.720 None 1.000 5 9 1996 2018
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 38 12 0.100 None 1.000 16 7 1997 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 6 7 2016 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 5 7 2010 2019
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 22 17 0.500 None 1.000 31 6 1997 2017
CUI: C0741923
Disease: cardiac event
cardiac event
phenotype Disease or Syndrome 82 18 0.100 None 1.000 21 6 1998 2018
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.500 None 1.000 14 6 1997 2019
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 649 224 0.070 None 0.857 7 5 2010 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.100 None 1.000 13 4 2008 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 1.000 12 4 2008 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.240 None 1.000 5 4 2006 2017
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.200 None 1.000 11 3 1997 2020
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 14 0.180 None 0.875 8 3 1999 2013
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.050 None 0.800 5 3 2005 2020