Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT MUTATION
TERT MUTATION - Associated Disease
- hepatoblastoma
- Source Database
- DisGeNET
- Description
- Our study demonstrates the importance of CTNNB1 mutations and NFE2L2-KEAP1 pathway activation in HB development and defines loss of genomic stability and TERT promoter mutations as prominent characteristics of aggressive HB with HCC features.
- Pubmed
- 25135868
- Section of the abstract supporting the evidence
- CONCLUSIONS
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 10
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs