Annotation Detail

Information
Associated Genes
MTR
Associated Variants
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000681177.1, ENST00000681102.1, ENST00000679842.1, ENST00000674797.2 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
Associated Disease
Down syndrome
Source Database
DisGeNET
Description
The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome.
Pubmed
18060320
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.153190648352159
Year of publication
2008
Drugs