DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathies ×

Gene: PRKAG2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.500

GeneticVariation

CLINVAR

Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.

2014

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.500

GeneticVariation

CLINVAR

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

2005

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.500

CausalMutation

CLINVAR