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 carcinoma
- 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
- 0.00081432561624091
- Year of publication
- 2004
Drugs