Annotation Detail

Information
Associated Genes
SLC6A4
Associated Variants
SLC6A4 MUTATION
SLC6A4 MUTATION
Associated Disease
Huntington disease
Source Database
DisGeNET
Description
In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R(2) between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson).
Pubmed
24102565
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
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00868613990656971
Drugs