Annotation Detail
Information
- Associated Genes
- VMA21
- Associated Variants
-
VMA21 MUTATION
VMA21 MUTATION - Associated Disease
- myopathy
- Source Database
- DisGeNET
- Description
- X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently reported mutations in the VMA21 gene.
- Pubmed
- 25809233
- Section of the abstract supporting the evidence
- INTRODUCTION
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
Drugs