Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 MUTATION
TP53 MUTATION
Associated Disease
neurilemmoma
Source Database
DisGeNET
Description
Two family members without a TP53 germline mutation who developed peripheral schwannomas also carried the MSH4 germline mutation, and in addition, a germline mutation of the LATS1 gene (c.286C>T; p.R96W).
Pubmed
25041856
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
3
Original source reporting the Gene Disease association
BeFree,GAD
DisGENET score for the Gene Disease association
0.00345279946692324
Drugs