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: C2678478
Disease: Brugada Syndrome 3
Brugada Syndrome 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 2 0.700 None 1.000 5 2 2007 2018
CUI: C4509113
Disease: bipolar type I disorder
bipolar type I disorder
disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2013 2013
CUI: C0878565
Disease: Electrocardiogram J wave
Electrocardiogram J wave
phenotype Laboratory Procedure 1 0.100 None 0
CUI: C4018858
Disease: J wave
J wave
phenotype Finding 1 0.100 None 0
CUI: C1856477
Disease: Slowed horizontal saccades
Slowed horizontal saccades
phenotype Finding 3 1 0.100 None 0 1
CUI: C3552821
Disease: EEG with photoparoxysmal response
EEG with photoparoxysmal response
phenotype Finding 3 1 0.100 None 0 1
CUI: C0010598
Disease: Cyclothymic Disorder
Cyclothymic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2011 2011
CUI: C0857345
Disease: Late onset epilepsy
Late onset epilepsy
disease Nervous System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2018 2018
CUI: C0858599
Disease: Taste sour
Taste sour
phenotype Sign or Symptom 4 0.010 None 1.000 1 2018 2018
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs
phenotype Finding 5 1 0.100 None 0 1
CUI: C1837650
Disease: Lack of spontaneous play
Lack of spontaneous play
phenotype Behavior and Behavior Mechanisms Finding 5 1 0.100 None 0 1
CUI: C1849683
Disease: No social interaction
No social interaction
phenotype Mental Disorders Finding 5 3 0.100 None 0 1
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 9 163 0.100 None 1.000 1 1 2015 2015
CUI: C3830518
Disease: Diabetic embryopathy
Diabetic embryopathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C2348199
Disease: Short Qt Syndrome
Short Qt Syndrome
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 10 5 0.010 None 1.000 1 2017 2017
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation
phenotype Finding 12 8 0.100 None 0 1
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 2018 2018
CUI: C0392156
Disease: Akathisia
Akathisia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 15 12 0.300 None 1.000 1 2018 2018
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 10 0.010 None 1.000 1 2018 2018
Ventricular Arrhythmia by ECG Finding
phenotype Laboratory or Test Result 17 0.100 None 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 17 1 0.100 None 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0
phenotype Finding 17 0.100 None 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0
phenotype Finding 17 0.100 None 0
Paroxysmal familial ventricular fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 18 5 0.100 None 0 1