Annotation Detail

Information
Associated Genes
MUC1
Associated Variants
MUC1 p.Thr22= (p.T22=) ( ENST00000471283.5, ENST00000620103.4, ENST00000615517.4, ENST00000457295.6, ENST00000368392.7, ENST00000343256.9, ENST00000338684.9, ENST00000368389.6, ENST00000368396.8, ENST00000342482.8, ENST00000368390.7, ENST00000368393.7, ENST00000368398.7, ENST00000610359.4, ENST00000438413.5, ENST00000337604.6 )
MUC1 p.Thr22= (p.T22=) ( ENST00000337604.6, ENST00000338684.9, ENST00000342482.8, ENST00000343256.9, ENST00000368389.6, ENST00000368390.7, ENST00000368392.7, ENST00000368393.7, ENST00000368396.8, ENST00000368398.7, ENST00000438413.5, ENST00000457295.6, ENST00000471283.5, ENST00000610359.4, ENST00000615517.4, ENST00000620103.4 )
Associated Disease
Malignant Squamous Cell Neoplasm
Source Database
DisGeNET
Description
The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histological type (OR 0.4; 95% CI 0.2-0.9) and a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.2-1.0), but not oesphageal adenocarcinoma.
Pubmed
22805490
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2012
Drugs