×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.
30562116 2018
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy.
28253841 2017
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257 2017
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
28341588 2017
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257 2017
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.
28588093 2017
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.
28431057 2017
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
29178656 2017
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant.
27335691 2016
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking.
26676851 2016
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Molecular Autopsy for Sudden Unexpected Death.
27727376 2016
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population.
26264440 2016
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
25820315 2015
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Exercise triggers ARVC phenotype in mice expressing a disease-causing mutated version of human plakophilin-2.
25857910 2015
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.
24967631 2014
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
25087486 2014
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.
24704780 2014
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear.
24585727 2014
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear.
24585727 2014
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Post-mortem genetic analysis in juvenile cases of sudden cardiac death.
25447171 2014
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.
24967631 2014
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes.
23973953 2013
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
23671136 2013
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy.
24125834 2013