Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Thr626Met (p.T626M), ENSG00000285505 p.Thr613Met (p.T613M)
(
ENST00000543770.5,
ENST00000545399.6,
ENST00000602133.5,
ENST00000648268.1 )
ATP1A3 p.Thr626Met (p.T626M), ENSG00000285505 p.Thr613Met (p.T613M) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- dystonia 12
- Source Database
- DisGeNET
- Description
- In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP.
- Pubmed
- 22534615
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.487328930546168
- Year of publication
- 2012
Drugs