Annotation Detail

Information
Associated Genes
RUNX1
Associated Variants
RUNX1 MUTATION
RUNX1 MUTATION
Associated Disease
acute leukemia
Source Database
DisGeNET
Description
Familial platelet disorder (FPD)/AML is an autosomal dominant disorder caused by germline mutation of RUNX1, marked by thrombocytopenia and propensity to acute leukemia.
Pubmed
24732596
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
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.012486326115694
Drugs