Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Tyr806Cys (p.Y806C) ( ENST00000355710.8, ENST00000340058.6, ENST00000713926.1, ENST00000615310.5 )
RET p.Tyr806Cys (p.Y806C) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
multiple endocrine neoplasia type 2B
Source Database
DisGeNET
Description
Y806C is a natural RET mutation identified in a patient affected by multiple endocrine neoplasia type 2B.
Pubmed
19029224
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.591974059078683
Year of publication
2009
Drugs