Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Glu768= (p.E768=) ( ENST00000615310.5, ENST00000355710.8, ENST00000713926.1, ENST00000340058.6 )
RET p.Glu768Asp (p.E768D) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Glu768Asp (p.E768D) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Glu768= (p.E768=) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Glu768Asp (p.E768D) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Glu768Asp (p.E768D) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
Malignant neoplasm of thyroid
Source Database
DisGeNET
Description
The RET E768D mutation is associated with MTC with a later age at presentation, incomplete penetrance and less aggressive course compared with other high risk RET mutations.
Pubmed
16736292
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0314872571613152
Year of publication
2006
Drugs