Annotation Detail

Information
Associated Genes
VHL
Associated Variants
VHL MUTATION
VHL MUTATION
Associated Disease
renal cell carcinoma
Source Database
DisGeNET
Description
In the past decade, our understanding of the genetic mutations associated with sporadic forms of RCC has increased considerably, with the most common mutations in clear cell RCC seen in the VHL, PBRM1, BAP1, and SETD2 genes.
Pubmed
25365943
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.239057832796053
Drugs