PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
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.
Ventricular Arrhythmia by ECG Finding
phenotype Laboratory or Test Result 17 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: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
disease Cardiovascular Diseases Disease or Syndrome 9 53 0.100 None 0 1
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.100 None 0
CUI: C0030591
Disease: Paroxysmal ventricular tachycardia
Paroxysmal ventricular tachycardia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C0030252
Disease: Palpitations
Palpitations
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Finding 70 7 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
CUI: C0039070
Disease: Syncope
Syncope
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.100 None 0
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 50 7 0.100 None 0
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 96 19 0.100 None 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.100 None 0
CUI: C0085614
Disease: First degree atrioventricular block
First degree atrioventricular block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 26 0.100 None 0
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 39 0.100 None 0
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 15 4 0.100 None 0
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding)
phenotype Cardiovascular Diseases Finding 23 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE
phenotype Finding 64 0.100 None 0
Dilatation of the ventricular cavity
phenotype Cardiovascular Diseases Anatomical Abnormality 6 2 0.100 None 0
CUI: C0155707
Disease: Trifascicular block
Trifascicular block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 23 0.100 None 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0
phenotype Finding 17 0.100 None 0
AV Block First Degree by ECG Finding
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 28 0.100 None 0
Arrhythmogenic Right Ventricular Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 82 136 0.500 strong 0.974 115 57 1985 2019
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 5 71 0.700 definitive 1.000 64 66 1996 2017
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.650 disputed 1.000 12 1 1996 2016
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 234 0.300 disputed 1.000 8 1996 2015
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 8 1996 2015