Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		disease 0.700 definitive 1.000 56 56 1996 2017
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.500 strong 0.974 66 49 1985 2019
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.500 None 1.000 0 8 2006 2019
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease 0.120 None 1.000 0 2 2006 2019
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		phenotype 0.100 None 1.000 19 4 2006 2017
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C4703449
Disease: Aborted sudden cardiac death
Aborted sudden cardiac death 		phenotype 0.100 None 1.000 17 1 2004 2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		disease 0.100 None 1.000 3 1 2010 2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.100 None 1.000 3 1 2004 2012
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C0520806
Disease: Unexplained sudden death
Unexplained sudden death 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		plakophilin 2 0.606 0.538 3.1E-18
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		disease 0.100 None 0 1