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
RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population.
Pubmed
15240649
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.32
Year of publication
2004
Drugs