Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT MUTATION
KIT MUTATION
Associated Disease
inflammatory myofibroblastic tumor
Source Database
DisGeNET
Description
To evaluate possible diagnostic utility of SDHB immunohistochemistry in the differential diagnostics of mesenchymal tumors of gastrointestinal tract (GIT), 11 cases of KIT/PDGFRA wt GISTs, 12 gastric schwannomas (GSs), 20 solitary fibrous tumors (SFTs), 4 leiomyomas (LMs), 16 leiomyosarcomas (LMSs), 5 synovial sarcomas (SSs), 3 endometrioid stromal sarcomas (ESSs), and 1 ileal inflammatory myofibroblastic tumor (IMT) were investigated for SDHB immunoexpression together with molecular genetic analysis of genes encoding succinate dehydrogenase (SDH).
Pubmed
25205505
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
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Drugs