Annotation Detail
Information
- Associated Genes
- MTR
- Associated Variants
-
MTR p.Val248Met (p.V248M)
(
ENST00000366577.10,
ENST00000535889.6,
ENST00000681177.1,
ENST00000681102.1,
ENST00000674797.2,
ENST00000679842.1 )
MTR p.Val248Leu (p.V248L) ( ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000535889.6, ENST00000366577.10, ENST00000681177.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000681177.1, ENST00000681102.1, ENST00000679842.1, ENST00000674797.2 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Ile221Val (p.I221V) ( ENST00000264668.6, ENST00000440940.7 )
MTR p.Val248Met (p.V248M) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
MTR p.Val248Leu (p.V248L) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Ile221Val (p.I221V) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- To investigate the association between 3 major polymorphisms in genes encoding enzymes involved in remethylation of homocysteine to methionine--methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, and betaine homocysteine methyltransferase (BHMT) G742A--and CAD, with assessment of small-study bias and differences between studies.
- Pubmed
- 22339686
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00954407278452882
- Year of publication
- 2012
Drugs