Annotation Detail
Information
- Associated Genes
- CBS
- Associated Variants
-
MTHFR p.Glu474Ala (p.E474A)
(
ENST00000376592.6,
ENST00000641407.1,
ENST00000376590.9,
ENST00000423400.7,
ENST00000641820.1,
ENST00000376583.7,
ENST00000376585.6 )
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 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
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
- obesity
- Source Database
- DisGeNET
- Description
- We evaluated the relationship between polymorphisms of methylene-tetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G), betaine:homocysteine methyltransferase (BHMT G742A) and cystathionine beta-synthase (CBS 68-bp ins) genes and the risk of obesity.
- Pubmed
- 17993766
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2007
Drugs