Annotation Detail

Information
Associated Genes
KIF5A
Associated Variants
KIF5A MUTATION
KIF5A MUTATION
Associated Disease
axonal neuropathy
Source Database
DisGeNET
Description
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype.
Pubmed
25695920
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
0.00081432561624091
Drugs