Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
multiple endocrine neoplasia type 2B
Source Database
DisGeNET
Description
Analysis of the RET protooncogene exons 10, 11, and 16 did not demonstrate point mutation in the MEN 2B region (M918T).
Pubmed
9270546
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.591974059078683
Year of publication
1997
Drugs