DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Arrhythmogenic Right Ventricular Dysplasia ×

Variant: rs397517408 ×

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:

rs397517408

DSC2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

GeneticVariation

CLINVAR

Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.

26743238

2016

dbSNP:

rs397517408

DSC2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

GeneticVariation

CLINVAR

Mechanistic basis of desmosome-targeted diseases.

23911551

2013

dbSNP:

rs397517408

DSC2

CUI:	C0349788
Disease:	Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic Right Ventricular Dysplasia

0.700

GeneticVariation

CLINVAR

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

19863551

2010