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 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
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 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
Associated Disease
Malignant tumor of colon
Source Database
DisGeNET
Description
However, statistically significant interactions modifying CC risk were observed for DNMT1 I311V with dietary folate, methionine, vitamin B2 , and vitamin B12 intake and for MTRR I22M with dietary folate, a predefined one-carbon dietary pattern, and vitamin B6 intake.
Pubmed
22961839
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00325730246496364
Year of publication
2013
Drugs