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: 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 0.920 None 1.000 12 6 1995 2018
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 267 0.800 None 0.989 87 262 1995 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.700 strong 1.000 17 15 2005 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 0.500 None 0.990 301 138 1995 2020
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.500 None 1.000 78 29 1995 2020
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 14 0.500 None 0.968 31 5 1995 2019
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.450 disputed 1.000 12 2 2002 2020
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 96 19 0.440 strong 1.000 5 1 2004 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.420 strong 1.000 3 3 2002 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.400 None 1.000 14 2000 2019
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 2017 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.380 None 1.000 9 2005 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.370 None 1.000 7 1 2009 2020
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.320 None 1.000 4 2001 2018
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 0.320 None 1.000 3 2 2007 2017
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.320 None 1.000 2 2009 2010
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease Mental Disorders Mental or Behavioral Dysfunction 376 98 0.320 None 1.000 2 2009 2010
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.310 None 1.000 2 2004 2005
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 157 1 0.300 None 1.000 2 2018 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 156 0.300 None 1.000 2 2018 2018
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 49 0.300 None 1.000 1 2006 2006
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 1 2014 2014
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 15 0.300 None 1.000 1 2006 2006
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
group Neoplasms Neoplastic Process 371 7 0.300 None 1.000 1 2014 2014
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.300 None 1.000 1 2005 2005