Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET c.73+9277T>C ( ENST00000355710.8, ENST00000684216.2, ENST00000615310.5, ENST00000683278.2, ENST00000640619.2, ENST00000340058.6, ENST00000638465.2, ENST00000713926.1 )
RET c.73+9277T>C ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
Associated Disease
Hirschsprung Disease
Source Database
DisGeNET
Description
No correlation between the rs2435357 polymorphism of RET and the expression of Hirschsprung disease was found.
Pubmed
24845202
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.528543720082936
Year of publication
2014
Drugs