Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL MUTATION
VHL MUTATION - Associated Disease
- paraganglioma
- Source Database
- DisGeNET
- Description
- Mutations of the von Hippel-Lindau (VHL) gene are associated with pheochromocytomas and paragangliomas, but the role of VHL in sympathoadrenal homeostasis is unknown.
- Pubmed
- 25385837
- 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,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0372722079550279
Drugs