Annotation Detail

Information
Associated Genes
MDM2
Associated Variants
MDM2 MUTATION
MDM2 MUTATION
Associated Disease
Soft Tissue Neoplasms
Source Database
DisGeNET
Description
Using FISH as gold standard, MLPA showed a sensitivity of 90% (36/40) and a specificity of 100% (31/31) in detecting amplification of MDM2 and CDK4 in lipomatous soft tissue tumors.
Pubmed
25679065
Section of the abstract supporting the evidence
ALL_TEXT_2/3
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
0.00217153497664243
Drugs