Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT MUTATION
KIT MUTATION
Associated Disease
Gastrointestinal Stromal Tumors
Source Database
DisGeNET
Description
C-KIT mutations are associatied with several human malignancies, such as gastrointestinal stromal tumors, acute myeloid leukemia, mast cell leukemia, and melanoma.
Pubmed
23944364
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
5
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