Annotation Detail

Information
Associated Genes
RUNX1
Associated Variants
RUNX1 MUTATION
RUNX1 MUTATION
Associated Disease
Leukemia, Myelocytic, Acute
Source Database
DisGeNET
Description
These findings clearly indicate that the RUNX1 mutation is robustly associated with thrombocytopenia in patients with FPD/AML, and transcription activator-like effector nuclease-mediated gene correction in iPSCs generated from patient-derived cells could provide a promising clinical application for treatment of the disease.
Pubmed
26021490
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,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.260873464257419
Drugs