DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Glycogen Storage Disease of Heart, Lethal Congenital ×

Variant: rs267606977 ×

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:

rs267606977

PRKAG2

CUI:	C1849813
Disease:	Glycogen Storage Disease of Heart, Lethal Congenital

Glycogen Storage Disease of Heart, Lethal Congenital

0.700

CausalMutation

CLINVAR

Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome.

27573176

2016

dbSNP:

rs267606977

PRKAG2

CUI:	C1849813
Disease:	Glycogen Storage Disease of Heart, Lethal Congenital

Glycogen Storage Disease of Heart, Lethal Congenital

0.700

CausalMutation

CLINVAR

PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.

26085771

2015

dbSNP:

rs267606977

PRKAG2

CUI:	C1849813
Disease:	Glycogen Storage Disease of Heart, Lethal Congenital

Glycogen Storage Disease of Heart, Lethal Congenital

0.700

CausalMutation

CLINVAR

Shared genetic causes of cardiac hypertrophy in children and adults.

18403758

2008