Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET MUTATION
RET MUTATION - Associated Disease
- Hyperparathyroidism, Primary
- Source Database
- DisGeNET
- Description
- The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection) proto-oncogene on chromosome 10.
- Pubmed
- 24684035
- Section of the abstract supporting the evidence
- INTRODUCTION
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,LHGDN
- DisGENET score for the Gene Disease association
- 0.00625309457951112
Drugs