Annotation Detail
Information
- Associated Genes
- TYMS
- Associated Variants
-
MTHFD1 p.Lys134Arg (p.K134R)
(
ENST00000557539.2,
ENST00000554768.6,
ENST00000697174.1,
ENST00000545908.6,
ENST00000697173.1,
ENST00000697168.1,
ENST00000652337.1,
ENST00000557370.3 )
PRDM2 p.Ser450Asn (p.S450N) ( ENST00000413440.5, ENST00000343137.8, ENST00000376048.9, ENST00000503842.5, ENST00000505823.5, ENST00000235372.11, ENST00000311066.10 )
MTRR p.Pro450Arg (p.P450R) ( ENST00000264668.6, ENST00000440940.7 )
MTHFD1 p.Lys134Arg (p.K134R) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 )
PRDM2 p.Ser450Asn (p.S450N) ( ENST00000235372.11, ENST00000311066.10, ENST00000343137.8, ENST00000376048.9, ENST00000413440.5, ENST00000503842.5, ENST00000505823.5 )
MTRR p.Pro450Arg (p.P450R) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05).
- Pubmed
- 26108676
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.111758699033395
- Year of publication
- 2015
Drugs