Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT MUTATION
KIT MUTATION - Associated Disease
- Gastrointestinal Stromal Tumors
- Source Database
- DisGeNET
- Description
- The diagnosis is confirmed by immunohistochemistry tests that identify CD 117 or DOG1 (typical receptors/markers for most GISTs) at the level of biopsy specimen.
- Pubmed
- 25408717
- 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
- 3
- 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