Annotation Detail
Information
- Associated Genes
- SLC6A4
- Associated Variants
-
SLC6A4 MUTATION
SLC6A4 MUTATION - Associated Disease
- Spastic syndrome
- Source Database
- DisGeNET
- Description
- Many reports suggests roles of N-terminal 17 amino acid domain of HTT (HTT-N17) towards subcellular localization, aggregate formation and subsequent pathogenicity induced by N-terminal HTT harboring polyQ stretch in pathogenic range.
- Pubmed
- 25446099
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs