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
- Vitamin B 12 Deficiency
- Source Database
- DisGeNET
- Description
- Finally, folate fortification unveiled cobalamin deficiency in some patients, associated with the methionine synthase A2756G mutation.
- Pubmed
- 15063399
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0805428837441606
- Year of publication
- 2004
Drugs