Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
Associated Disease
Myeloid Leukemia, Chronic
Source Database
DisGeNET
Description
Methylenetetrahydrofolate reductase A1298C genotypes are associated with the risks of acute lymphoblastic leukaemia and chronic myelogenous leukaemia in the Korean population.
Pubmed
16706930
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0210840465870687
Year of publication
2006
Drugs