Annotation Detail
Information
- Associated Genes
- RUNX1
- Associated Variants
-
RUNX1 MUTATION
RUNX1 MUTATION - Associated Disease
- leukemia
- Source Database
- DisGeNET
- Description
- Altogether, RUNX1 dosage could explain the differential phenotype according to RUNX1 mutations, with a haploinsufficiency leading to thrombocytopenia alone in a majority of cases whereas a more complete gene deletion predisposes to leukemia.
- Pubmed
- 25490895
- 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,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.115088436846769
Drugs