Annotation Detail
Information
- Associated Genes
- DNMT1
- Associated Variants
-
DNMT1 p.Ile327Phe (p.I327F)
(
ENST00000340748.8,
ENST00000359526.9,
ENST00000676610.1,
ENST00000677946.1,
ENST00000678804.1,
ENST00000679103.1,
ENST00000679313.1 )
DNMT1 p.Ile327Val (p.I327V) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
DNMT1 p.Ile327Leu (p.I327L) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
DNMT1 p.Ile327Phe (p.I327F) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
DNMT1 p.Ile327Val (p.I327V) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 )
DNMT1 p.Ile327Leu (p.I327L) ( ENST00000340748.8, ENST00000359526.9, ENST00000676610.1, ENST00000677946.1, ENST00000678804.1, ENST00000679103.1, ENST00000679313.1 ) - Associated Disease
- esophageal carcinoma
- Source Database
- DisGeNET
- Description
- There was an inverse association between DNMT1 rs2228612 and esophageal cancer (any G versus A/A, SBOR: 0.60, 95% posterior limits: 0.39, 0.94).
- Pubmed
- 25337902
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs