Annotation Detail
Information
- Associated Genes
- KIF5A
- Associated Variants
-
KIF5A MUTATION
KIF5A MUTATION - Associated Disease
- Hereditary Autosomal Dominant Spastic Paraplegia
- Source Database
- DisGeNET
- Description
- SPG10 is an autosomal dominant hereditary spastic paraplegia (HSP) caused by mutations in the gene KIF5A encoding the heavy chain of kinesin, a motor protein implied in motility functions within cells.
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs