Annotation Detail
Information
- Associated Genes
- SLC6A4
- Associated Variants
-
SLC6A4 MUTATION
SLC6A4 MUTATION - Associated Disease
- Huntington disease
- Source Database
- DisGeNET
- Description
- We observed a diversity of HTT region haplotypes in both normal and expanded chromosomes, representative of more than one ancestral chromosome underlying HD in Portugal, where multiple independent events on distinct chromosome 4 haplotypes have given rise to expansion into the pathogenic range.
- Pubmed
- 25656686
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- 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