Annotation Detail
Information
- Associated Genes
- KIF5A
- Associated Variants
-
KIF5A MUTATION
KIF5A MUTATION - Associated Disease
- Charcot-Marie-Tooth disease
- Source Database
- DisGeNET
- Description
- The set of mutations in KIF5A described so far account for a spectrum of clinical heterogeneity ranging from pure HSP to isolated peripheral nerve involvement (Charcot-Marie-Tooth phenotype) or complicated HSP phenotypes.
- Pubmed
- 25695920
- 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
- 0.00081432561624091
Drugs