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
Medullary carcinoma of thyroid
Source Database
DisGeNET
Description
Clinical relevance of RET variants G691S, L769L, S836S and S904S to sporadic medullary thyroid cancer.
Pubmed
22111543
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.32
Year of publication
2012
Drugs