Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET MUTATION
RET MUTATION
Associated Disease
Hyperparathyroidism, Primary
Source Database
DisGeNET
Description
MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with medullary thyroid carcinoma (MTC) incidence of 90-100%, bilateral pheochromocytoma (PCC) incidence of 40-50% and primary hyperparathyroidism (HPT) incidence of 10-25%.
Pubmed
24969991
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree,LHGDN
DisGENET score for the Gene Disease association
0.00625309457951112
Drugs