Annotation Detail
Information
- Associated Genes
- SLC6A4
- Associated Variants
-
SLC6A4 MUTATION
SLC6A4 MUTATION - Associated Disease
- Huntington disease
- Source Database
- DisGeNET
- Description
- The causative gene (mutated HTT) is widely expressed outside the CNS and several peripheral signs of disease, including weight loss and increased proinflammatory signalling, are often seen; however, their importance in the pathophysiology of Huntington's disease is not clear.
- Pubmed
- 26466780
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00868613990656971
Drugs