Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT MUTATION
KIT MUTATION
Associated Disease
juvenile myelomonocytic leukemia
Source Database
DisGeNET
Description
Cultured JMML CD34(+)CD38(-) cells expressed CD117, CD116, c-mpl, CD123, CD90, but not CXCR4, and formed GM and erythroid colonies.
Pubmed
25102944
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
6
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs