Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Tyr791Phe (p.Y791F) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Tyr791Phe (p.Y791F) ( ENST00000615310.5, ENST00000713926.1, ENST00000340058.6, ENST00000355710.8 )
Associated Disease
Thyroid carcinoma
Source Database
DisGeNET
Description
We present a large kindred with the Y791F mutation in the RET proto-oncogene that did not have medullary thyroid carcinomas.
Pubmed
17483988
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.108718840270592
Year of publication
2007
Drugs