Annotation Detail

Information
Associated Genes
RUNX1
Associated Variants
RUNX1 MUTATION
RUNX1 MUTATION
Associated Disease
B-cell childhood acute lymphoblastic leukemia
Source Database
DisGeNET
Description
RUNX1 copy numbers seem to be proportional to the age of B-ALL onset and the frequency of CSF involvement, while RUNX1 amplification vs translocation causes aberrant expression of CD7 and CD13, respectively.
Pubmed
26185316
Section of the abstract supporting the evidence
CONCLUSIONS
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00244297684872273
Drugs