Annotation Detail
Information
- Associated Genes
- SOD2
- Associated Variants
-
ANKK1 p.Glu713Lys (p.E713K)
(
ENST00000303941.4 )
DRD3 p.Gly9Ser (p.G9S) ( ENST00000295881.9, ENST00000383673.5, ENST00000460779.5, ENST00000467632.5 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
ANKK1 p.Glu713Lys (p.E713K) ( ENST00000303941.4 )
DRD3 p.Gly9Ser (p.G9S) ( ENST00000295881.9, ENST00000383673.5, ENST00000460779.5, ENST00000467632.5 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 ) - Associated Disease
- lingual-facial-buccal dyskinesia
- Source Database
- DisGeNET
- Description
- Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.
- Pubmed
- 18781856
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00954407278452882
- Year of publication
- 2008
Drugs