Annotation Detail
Information
- Associated Genes
- SLC6A3
- Associated Variants
-
SLC6A3 MUTATION
SLC6A3 MUTATION - Associated Disease
- Dystonia, Diurnal
- Source Database
- DisGeNET
- Description
- These two with abnormal DAT imaging had a PD phenotype, while the remaining three subjects with the novel GCH1 variant had normal DAT imaging and a DRD phenotype.
- Pubmed
- 25634433
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs