Annotation Detail

Information
Associated Genes
MSH2
Associated Variants
MSH2 p.Ala636Pro (p.A636P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Ala636Pro (p.A636P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management.
Pubmed
17414604
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.143788839938871
Year of publication
2007
Drugs