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
Leukemia, Lymphocytic, Acute, L1
Source Database
DisGeNET
Description
The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal.
Pubmed
16096524
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0305323114581486
Year of publication
2005
Drugs