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
The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies.
Pubmed
25887804
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.32
Year of publication
2015
Drugs