Annotation Detail

Information
Associated Genes
MTHFD1
Associated Variants
FOLH1 p.His475Tyr (p.H475Y) ( ENST00000533034.1, ENST00000256999.7, ENST00000356696.7, ENST00000340334.11 )
MTHFD1 p.Arg653Gln (p.R653Q) ( ENST00000557539.2, ENST00000697174.1, ENST00000554768.6, ENST00000697173.1, ENST00000545908.6, ENST00000557370.3, ENST00000652337.1, ENST00000697168.1 )
FOLH1 p.His475Tyr (p.H475Y) ( ENST00000256999.7, ENST00000340334.11, ENST00000356696.7, ENST00000533034.1 )
MTHFD1 p.Arg653Gln (p.R653Q) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study.
Pubmed
15122597
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0150165174878531
Year of publication
2004
Drugs