Annotation Detail

Information
Associated Genes
SETD2
Associated Variants
SETD2 MUTATION
SETD2 MUTATION
Associated Disease
Von Hippel-Lindau syndrome
Source Database
DisGeNET
Description
We performed immunohistochemical studies on 23 hemangioblastomas, 13 meningiomas and 4 hemangiopericytomas to evaluate expression of the VHL-HIF-1 regulated proteins vascular endothelial growth factor (VEGF), carbonic anhydrase IX (CAIX) and hypoxia inducible gene 2 (HIG-2).
Pubmed
25310734
Section of the abstract supporting the evidence
MATERIAL AND METHODS
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
DisGENET score for the Gene Disease association
0.00162865123248182
Drugs