DisGeNET - a database of gene-disease associations

PRKAG2, protein kinase AMP-activated non-catalytic subunit gamma 2, 51422

N. diseases: 122; N. variants: 53

Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) ×

Source: ALL

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:

rs121908989

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs28938173

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs28938173

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs267606976

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606977

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606978

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606979

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs587776643

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

CTAA

0.700

CausalMutation

CLINVAR

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

11371514

2001

dbSNP:

rs121908989

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

11371514

2001

dbSNP:

rs121908988

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.700

GeneticVariation

UNIPROT

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

11371514

2001

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

CausalMutation

CLINVAR

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.

11407343

2001

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

CausalMutation

CLINVAR

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

11827995

2002

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

11827995

2002

dbSNP:

rs121908989

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

11827995

2002

dbSNP:

rs121908988

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.700

GeneticVariation

UNIPROT

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

11827995

2002

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

CausalMutation

CLINVAR

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

14722619

2004

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

CausalMutation

CLINVAR

Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.

15611370

2005

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

21267010

2011

dbSNP:

rs121908989

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

21267010

2011

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs121908989

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

25173338

2014

dbSNP:

rs121908989

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

25173338

2014

dbSNP:

rs121908987

Entrez Id:	51422
Gene Symbol:	PRKAG2

PRKAG2

CUI:	C1833236
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015