Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Gly691Ser (p.G691S) ( ENST00000713926.1, ENST00000355710.8, ENST00000340058.6, ENST00000615310.5 )
RET p.Gly691Ser (p.G691S) ( ENST00000615310.5, ENST00000340058.6, ENST00000355710.8, ENST00000713926.1 )
Associated Disease
multiple endocrine neoplasia type 2A
Source Database
DisGeNET
Description
Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A.
Pubmed
12702567
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.613995490717024
Year of publication
2003
Drugs