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
- Malignant neoplasm of ovary
- Source Database
- DisGeNET
- Description
- [We sought to replicate associations for DPYD rs1801265, DNMT3A rs13420827, MTHFD1 rs1950902, MTHFS rs17284990, and TYMS rs495139 with risk of ovarian carcinoma overall and to use the large sample of assembled cases to investigate associations by histologic type.]
- Pubmed
- 20570913
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2010
Drugs