Annotation Detail

Information
Associated Genes
TYMS
Associated Variants
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
Associated Disease
adult acute lymphocytic leukemia
Source Database
DisGeNET
Description
Polymorphisms in thymidylate synthase (TS) 28-bp tandem repeats in the promoter region and in cytosolic serine hydroxymethyltransferase (SHMT1 C1420T) have been reported to modulate the risk of adult acute lymphocytic leukemia (ALL).
Pubmed
12604405
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2003
Drugs