Annotation Detail

Information
Associated Genes
SLC6A4
Associated Variants
SLC6A4 MUTATION
SLC6A4 MUTATION
Associated Disease
Huntington disease
Source Database
DisGeNET
Description
HTT acts as a modulator of HIP14 activity such that in the presence of the HD mutation, HIP14 is less active.
Pubmed
25849918
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
6
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00868613990656971
Drugs