Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Glu470Ala (p.E470A)
(
ENST00000376590.9,
ENST00000641407.1,
ENST00000376592.6,
ENST00000376585.6,
ENST00000376583.7,
ENST00000641820.1,
ENST00000423400.7 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Primary central nervous system lymphoma
- Source Database
- DisGeNET
- Description
- Furthermore, for the methylenetetrahydrofolate reductase (MTHFR) c.1298A > C (E429A) polymorphism the mutated C-allele was found more frequently among PCNSL patients than among population controls (P = 0.026; OR = 1.57; 1.05-2.34).
- Pubmed
- 20237949
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs