Annotation Detail
Information
- Associated Genes
- PRKAG2
- Associated Variants
-
PRKAG2 p.Thr400Asn (p.T400N)
(
ENST00000287878.9,
ENST00000392801.6,
ENST00000418337.6,
ENST00000492843.6,
ENST00000650858.1,
ENST00000651378.1,
ENST00000651764.1,
ENST00000652047.1,
ENST00000652159.1,
ENST00000652321.2 )
PRKAG2 p.Thr400Asn (p.T400N) ( ENST00000287878.9, ENST00000392801.6, ENST00000418337.6, ENST00000492843.6, ENST00000650858.1, ENST00000651378.1, ENST00000651764.1, ENST00000652047.1, ENST00000652159.1, ENST00000652321.2 ) - Associated Disease
- CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
- Source Database
- DisGeNET
- Description
- Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
- Pubmed
- 11827995
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2002
Drugs