Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA p.Gly309Arg (p.G309R)
(
ENST00000714057.1,
ENST00000714054.1,
ENST00000577106.6,
ENST00000570803.6,
ENST00000390015.7,
ENST00000714062.1,
ENST00000714058.1,
ENST00000714055.1,
ENST00000302262.8 )
GAA p.Gly309Arg (p.G309R) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 ) - Associated Disease
- Glycogen storage disease type II
- Source Database
- DisGeNET
- Description
- Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
- Pubmed
- 16917947
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.499337113635194
- Year of publication
- 2006
Drugs