Annotation Detail
Information
- Associated Genes
- MRC1
- Associated Variants
-
MRC1 MUTATION
MRC1 MUTATION - Associated Disease
- Malignant neoplasm of endometrium
- Source Database
- DisGeNET
- Description
- We checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>A (rs4987188) transition in the hMSH2 gene resulting in a Gly22Asp substitution and a -93G>A (rs1800734) transition in the promoter of the hMLH1 gene.
- Pubmed
- 25804231
- Section of the abstract supporting the evidence
- AIM
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0100433492669712
Drugs