Annotation Detail
Information
- Associated Genes
- ATP6V0E1
- Associated Variants
-
ATP6V0E1 MUTATION
ATP6V0E1 MUTATION - Associated Disease
- Glycogen Storage Disease Type IIb
- Source Database
- DisGeNET
- Description
- These features have been most clearly described in patients with Danon's disease due to LAMP2 deficiency and X-linked myopathy with excessive autophagy (XMEA) due to mutations in VMA21.
- Pubmed
- 25557463
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs