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.
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
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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.500 None 1.000 11 8 2006 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.400 None 1.000 3 2 2017 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.310 None 1.000 2 1 2016 2016
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
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 4 0.300 disputed 1.000 8 1996 2015
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.300 disputed 1.000 8 1996 2015
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.300 disputed 1.000 8 1996 2015
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: C1399226
Disease: Ectopic rhythm
Ectopic rhythm
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 13 0.300 disputed 1.000 8 1996 2015
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: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.300 None 1.000 2 2018 2018
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction
disease Cardiovascular Diseases Disease or Syndrome 35 26 0.300 None 1.000 1 2017 2017
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 176 37 0.130 None 1.000 3 2013 2019
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.120 None 1.000 2 4 2006 2019
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change
phenotype Finding 18 27 0.100 None 1.000 19 4 2006 2017
CUI: C4703449
Disease: Aborted sudden cardiac death
Aborted sudden cardiac death
phenotype Cardiovascular Diseases Finding 1 1 0.100 None 1.000 17 1 2004 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 1.000 3 1 2004 2012
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 0.100 None 1.000 3 1 2010 2013
CUI: C0520806
Disease: Unexplained sudden death
Unexplained sudden death
phenotype Pathological Conditions, Signs and Symptoms Finding 2 1 0.100 None 1.000 1 1 2010 2010
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
Dilatation of the ventricular cavity
phenotype Cardiovascular Diseases Anatomical Abnormality 6 2 0.100 None 0