Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL MUTATION
VHL MUTATION - Associated Disease
- renal cell carcinoma
- Source Database
- DisGeNET
- Description
- Clear cell renal cell carcinomas (RCC) frequently display inactivation of von Hippel-Lindau (VHL) gene leading to increased level of hypoxia-inducible factors (HIF).
- Pubmed
- 25297632
- 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,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.239057832796053
Drugs