Annotation Detail

Information
Associated Genes
VHL
Associated Variants
VHL MUTATION
VHL MUTATION
Associated Disease
renal cell carcinoma
Source Database
DisGeNET
Description
Renal cell carcinoma (RCC) of clear-cell type (ccRCC), the most common type, begins with an intragenic mutation in the von Hippel-Lindau (VHL) gene and loss of 3p (where VHL is located).
Pubmed
25359211
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
4
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.239057832796053
Drugs