Annotation Detail

Information
Associated Genes
SHMT1
Associated Variants
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
Associated Disease
Squamous cell carcinoma of esophagus
Source Database
DisGeNET
Description
The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated.
Pubmed
17206530
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2007
Drugs