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
Medullary carcinoma of thyroid
Source Database
DisGeNET
Description
Until the end of the study, at a median age of 16.2 (range, 0.5-34.9 years), all 25 M918T RET carriers had developed medullary thyroid cancer.
Pubmed
19041016
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.32
Year of publication
2008
Drugs