Annotation Detail
Information
- Associated Genes
- MTHFD1
- Associated Variants
-
MTHFD1 p.Lys134Arg (p.K134R)
(
ENST00000557539.2,
ENST00000554768.6,
ENST00000697174.1,
ENST00000545908.6,
ENST00000697173.1,
ENST00000697168.1,
ENST00000652337.1,
ENST00000557370.3 )
MTHFD1 p.Lys134Arg (p.K134R) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 ) - Associated Disease
- colon carcinoma
- Source Database
- DisGeNET
- Description
- Meanwhile, the MTHFD1 G401A might play a protective role in the development of colon cancer.
- Pubmed
- 23894459
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs