Annotation Detail

Information
Associated Genes
SLC6A2
Associated Variants
SLC6A2 MUTATION
SLC6A2 MUTATION
SLC6A2 p.Thr429= (p.T429=) ( ENST00000567238.1, ENST00000568943.6, ENST00000561820.5, ENST00000219833.13, ENST00000566163.5, ENST00000414754.7, ENST00000379906.6 )
SLC6A2 p.Thr429= (p.T429=) ( ENST00000566163.5, ENST00000219833.13, ENST00000414754.7, ENST00000379906.6, ENST00000567238.1, ENST00000561820.5, ENST00000568943.6 )
SLC6A2 p.Thr429= (p.T429=) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 )
SLC6A2 p.Thr429= (p.T429=) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 )
Associated Disease
attention deficit hyperactivity disorder
Source Database
DisGeNET
Description
Regional brain perfusion before and after treatment with methylphenidate may be associated with the G1287A polymorphism of the norepinephrine transporter gene in children with attention-deficit/hyperactivity disorder.
Pubmed
22405810
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0431817969673997
Year of publication
2012
Drugs