Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET MUTATION
RET MUTATION
Associated Disease
Gastrointestinal symptom
Source Database
DisGeNET
Description
In families with MEN2A and known exon 10 RET mutations, the threshold for investigation for HSCR in those with gastrointestinal symptoms should be very low.
Pubmed
24972642
Section of the abstract supporting the evidence
CONCLUSION
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
18
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs