Annotation Detail
Information
- Associated Genes
- SLC6A4
- Associated Variants
-
SLC6A4 MUTATION
SLC6A4 MUTATION - Associated Disease
- Huntington disease
- Source Database
- DisGeNET
- Description
- As a Mendelian neurodegenerative disorder, the genetic risk of Huntington's disease (HD) is conferred entirely by an HTT CAG repeat expansion whose length is the primary determinant of the rate of pathogenesis leading to disease onset.
- Pubmed
- 26232222
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00868613990656971
Drugs