Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL MUTATION
VHL MUTATION - Associated Disease
- Von Hippel-Lindau syndrome
- Source Database
- DisGeNET
- Description
- Alterations of the von Hippel-Lindau (VHL) tumor suppressor gene can cause different hereditary tumors associated with VHL syndrome, but the potential role of the VHL gene in papillary thyroid carcinoma (PTC) has not been characterized.
- Pubmed
- 25490036
- 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,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.658392405606355
Drugs