Annotation Detail
Information
- Associated Genes
- SLC6A4
- Associated Variants
-
SLC6A4 MUTATION
SLC6A4 MUTATION - Associated Disease
- Huntington disease
- Source Database
- DisGeNET
- Description
- Huntington disease (HD), the most common inherited cause of chorea, is an autosomal dominant disorder, caused by an expanded trinucleotide CAG repeat (>39) in the HTT gene on chromosome 4p16.3.
- Pubmed
- 25034271
- 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