Annotation Detail
Information
- Associated Genes
- RUNX1
- Associated Variants
-
RUNX1 MUTATION
RUNX1 MUTATION - Associated Disease
- Blood Platelet Disorders
- Source Database
- DisGeNET
- Description
- Whole-exome sequencing confirmation of a novel heterozygous mutation in RUNX1 in a pregnant woman with platelet disorder.
- Pubmed
- 24853048
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00624316305784698
Drugs