Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT MUTATION
TERT MUTATION - Associated Disease
- Thyroid Neoplasm
- Source Database
- DisGeNET
- Description
- Two promoter mutations, chr5:1 295 228C>T and chr5:1 295 250C>T, in the gene for telomerase reverse transcriptase (TERT) have been recently identified in thyroid cancers and shown to be important in thyroid tumor pathogenesis.
- Pubmed
- 25121551
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.133068935946511
Drugs