Annotation Detail
Information
- Associated Genes
- MTR
- Associated Variants
-
MTRR p.Ile22Met (p.I22M)
(
ENST00000264668.6,
ENST00000440940.7 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- Down syndrome
- Source Database
- DisGeNET
- Description
- Recent studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR, C677T) and methionine synthase gene (MTRR, A66G) in mothers with DS child.
- Pubmed
- 12626825
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.153190648352159
- Year of publication
- 2003
Drugs