Annotation Detail
Information
- Associated Genes
- AKT1
- Associated Variants
-
AKT1 MUTATION
AKT1 MUTATION - Associated Disease
- severe congenital neutropenia
- Source Database
- DisGeNET
- Description
- Similarly, high-dose G-CSF (or downstream signaling through AKT/BCL2) rescues the dysgranulopoietic defect in SCN patient-derived iPSCs through C/EBPβ-dependent emergency granulopoiesis.
- Pubmed
- 26193632
- 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
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs