Annotation Detail

Information
Associated Genes
JAK3
Associated Variants
JAK3 MUTATION
JAK3 MUTATION
Associated Disease
Malignant Mesothelioma of Peritoneum
Source Database
DisGeNET
Description
Targeted, massively parallel DNA sequencing and molecular inversion probe microarray analysis revealed a germline TP53 mutation compatible with Li-Fraumeni-like syndrome, somatic mutations of PIK3CA in the endometrial cancer, and a somatic mutation of GNA11 and JAK3 in the PMM.
Pubmed
25588929
Section of the abstract supporting the evidence
CASE PRESENTATION
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
4
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs