Annotation Detail

Information
Associated Genes
SETD2
Associated Variants
SETD2 MUTATION
SETD2 MUTATION
Associated Disease
Trichoepithelioma
Source Database
DisGeNET
Description
We used immunohistochemical staining of formalin-fixed paraffin-embedded BCC (n = 45) and TE (n = 35) samples to assess activity of HIF1, mTORC1 and their most important target genes.
Pubmed
25181405
Section of the abstract supporting the evidence
METHODS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
6
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs