Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT MUTATION
KIT MUTATION - Associated Disease
- Gastrointestinal Stromal Tumors
- Source Database
- DisGeNET
- Description
- KIT and PDGFRA gene mutations are the major genetic alterations seen in gastrointestinal stromal tumors (GISTs) and are being used clinically for predicting response to imatinib therapy.
- Pubmed
- 25481675
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.760239543636234
Drugs