Annotation Detail
Information
- Associated Genes
- RUNX1
- Associated Variants
-
RUNX1 MUTATION
RUNX1 MUTATION - Associated Disease
- Preleukemia
- Source Database
- DisGeNET
- Description
- Currently, Clinical Laboratory Improvement Amendments-approved testing exists for the following: familial platelet disorder with propensity to acute myeloid leukemia, caused by mutations in RUNX1; familial myelodysplastic syndrome/acute myeloid leukemia with mutated GATA2; familial acute myeloid leukemia with mutated CEBPA; and the inherited bone marrow failure syndromes, including dyskeratosis congenita, a disease of abnormal telomere maintenance.
- Pubmed
- 25311743
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree,GAD
- DisGENET score for the Gene Disease association
- 0.0134202038637738
Drugs