Annotation Detail

Information
Associated Genes
RUNX1
Associated Variants
RUNX1 MUTATION
RUNX1 MUTATION
Associated Disease
pancytopenia
Source Database
DisGeNET
Description
Disruption of Runx1 and Runx3 leads to bone marrow failure and leukemia predisposition due to transcriptional and DNA repair defects.
Pubmed
25066130
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree,LHGDN
DisGENET score for the Gene Disease association
0.00353867585870808
Drugs