Annotation Detail
Information
- Associated Genes
- KIF5A
- Associated Variants
-
KIF5A MUTATION
KIF5A MUTATION - Associated Disease
- Congenital deafness
- Source Database
- DisGeNET
- Description
- A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.
- Pubmed
- 24939576
- 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