Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 MUTATION
TP53 MUTATION
Associated Disease
retinoblastoma
Source Database
DisGeNET
Description
In addition, loss-of-function mutations in p53 (TP53) as well as deleterious mutations in the tumor suppressors retinoblastoma (RB1) and neurofibromin 1 (NF1) were identified exclusively in malignant tumors.
Pubmed
25593300
Section of the abstract supporting the evidence
UNLABELLED
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,LHGDN
DisGENET score for the Gene Disease association
0.0605514005172359
Drugs