Annotation Detail
Information
- Associated Genes
- MSTN
- Associated Variants
-
MSTN p.Lys153Arg (p.K153R)
(
ENST00000260950.5 )
MSTN p.Lys153Arg (p.K153R) ( ENST00000260950.5 ) - Associated Disease
- Glycogen Storage Disease Type V
- Source Database
- DisGeNET
- Description
- Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?
- Pubmed
- 19232494
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs