DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Arrhythmogenic Right Ventricular Dysplasia ×

Variant: rs397516986 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

27532257

2017

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

29178656

2017

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.

28431057

2017

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.

28588093

2017

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Molecular Autopsy for Sudden Unexpected Death.

27727376

2016

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.

25820315

2015

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear.

24585727

2014

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

23671136

2013

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.

23514727

2013

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes.

23973953

2013

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.

20400443

2010

dbSNP:

rs397516986

PKP2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

CausalMutation

CLINVAR

Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.

19880068

2009