Annotation Detail
Information
- Associated Genes
- AGXT
- Associated Variants
-
AGXT MUTATION
AGXT MUTATION - Associated Disease
- Glycogen storage disease type II
- Source Database
- DisGeNET
- Description
- DNA was extracted and tested for GAA mutations and some genetic polymorphisms able to influence muscle properties (ACE, ACTN3, AGT and PPARα genes).We compared the polymorphisms analyzed in groups of patients with Pompe disease clustered for their homogeneous genotype.
- Pubmed
- 25103075
- Section of the abstract supporting the evidence
- METHODS
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs