Annotation Detail

Information
Associated Genes
MTRR
Associated Variants
MTRR p.Ser257Thr (p.S257T) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Arg415Cys (p.R415C) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Ser257Thr (p.S257T) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Arg415Cys (p.R415C) ( ENST00000264668.6, ENST00000440940.7 )
Associated Disease
Adenoma of large intestine
Source Database
DisGeNET
Description
In addition, the methionine synthase reductase (MTRR) Arg415Cys and MTRR Ser284Thr variant carriers, also in the vitamin B(12) pathway, have suggestive associations with advanced colorectal adenoma (defined as being larger than 1 cm, villous, tubular-villous or carcinoma in situ histology).
Pubmed
17389618
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2007
Drugs