×
Entrez Id: 3728
Gene Symbol: JUP
JUP
Arrhythmogenic Right Ventricular Dysplasia
0.190
GeneticVariation
CLINVAR
×
Entrez Id: 1674
Gene Symbol: DES
DES
Arrhythmogenic Right Ventricular Dysplasia
0.150
GeneticVariation
CLINVAR
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Arrhythmogenic Right Ventricular Dysplasia
0.140
GeneticVariation
CLINVAR
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Arrhythmogenic Right Ventricular Dysplasia
0.140
CausalMutation
CLINVAR
×
Entrez Id: 29119
Gene Symbol: CTNNA3
CTNNA3
Arrhythmogenic Right Ventricular Dysplasia
0.130
CausalMutation
CLINVAR
×
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2
Arrhythmogenic Right Ventricular Dysplasia
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
How shortening a channel may lower its conductance. The case of des-Val7-DVal8-gramicidin A.
2412583 1985
×
Entrez Id: 1832
Gene Symbol: DSP
DSP
Arrhythmogenic Right Ventricular Dysplasia
0.200
GeneticVariation
CLINVAR
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.
10594734 1999
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
15489853 2004
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
15489853 2004
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
In this study, we provide new evidence that mutations in the desmosomal plakophilin-2 gene can cause ARVC .
16415378 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
17010805 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
Clinical features of ARVD/C were compared between 2 groups of patients: those with a PKP2 mutation and those with no detectable PKP2 mutation.
16549640 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies.
16774985 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
PKP2 mutations were identified in 16 of these 23 ARVC index patients (70%) with familial ARVC .16567567 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
PKP2 mutations were identified in 16 of these 23 ARVC index patients (70%) with familial ARVC .16567567 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
17010805 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
Clinical features of ARVD/C were compared between 2 groups of patients: those with a PKP2 mutation and those with no detectable PKP2 mutation.
16549640 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
GeneticVariation
CLINVAR
Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.
16893920 2006
×
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
Arrhythmogenic Right Ventricular Dysplasia
0.500
CausalMutation
CLINVAR
In this study, we provide new evidence that mutations in the desmosomal plakophilin-2 gene can cause ARVC .
16415378 2006
×
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
0.200
CausalMutation
CLINVAR
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
16773573 2006
×
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
0.200
GeneticVariation
CLINVAR
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.
16505173 2006
×
Entrez Id: 1829
Gene Symbol: DSG2
DSG2
Arrhythmogenic Right Ventricular Dysplasia
0.200
GeneticVariation
CLINVAR
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
16773573 2006
×
Entrez Id: 1824
Gene Symbol: DSC2
DSC2
Arrhythmogenic Right Ventricular Dysplasia
0.200
GeneticVariation
CLINVAR
These data identify DSC2 mutations as a cause of ARVC in humans and demonstrate that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function.
17186466 2006
×
Entrez Id: 1832
Gene Symbol: DSP
DSP
Arrhythmogenic Right Ventricular Dysplasia
0.200
GeneticVariation
CLINVAR
To establish a cause and effect relationship between those DSP missense mutations and ARVD/C , we performed in vitro and in vivo analyses of the mutated proteins.
16917092 2006