Annotation Detail
Information
- Associated Genes
- KIF5A
- Associated Variants
-
KIF5A MUTATION
KIF5A MUTATION - Associated Disease
- Peripheral axonal neuropathy
- Source Database
- DisGeNET
- Description
- We stress the concept that detection of a peripheral axonal neuropathy in an autosomal dominant HSP patient should be regarded as an important diagnostic tool and should guide clinicians to seek, first of all, KIF5A mutations.
- Pubmed
- 25695920
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 9
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs