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
colorectal carcinoma
Source Database
DisGeNET
Description
C677T and A1298C mutations in the MTHFR gene and survival in colorectal cancer.
Pubmed
20076818
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0263298615917894
Year of publication
2009
Drugs