Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES MUTATION
DES MUTATION - Associated Disease
- giant axonal neuropathy 1
- Source Database
- DisGeNET
- Description
- Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.
- Pubmed
- 25398950
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs