Annotation Detail

Information
Associated Genes
ASXL1
Associated Variants
ASXL1 MUTATION
ASXL1 MUTATION
Associated Disease
Leukemia, Myelocytic, Acute
Source Database
DisGeNET
Description
A recent report in Nature now demonstrates that a specific mutation in mouse collagen-expressing osteoblastic cells leads to MDS and AML with 100% penetrance and is associated with strikingly similar findings in human patients.
Pubmed
24589711
Section of the abstract supporting the evidence
ALL_TEXT
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree,GAD
DisGENET score for the Gene Disease association
0.0511506240829359
Drugs