Annotation Detail
Information
- Associated Genes
- PIK3R1
- Associated Variants
-
PIK3R1 MUTATION
PIK3R1 MUTATION - Associated Disease
- juvenile myelomonocytic leukemia
- Source Database
- DisGeNET
- Description
- Here, we show that the JMML-associated Cbl mutant in complex with the Src family kinase Lyn promotes Cbl's adapter function, leading to increased association to PI3K regulatory subunit p85 and Lyn-dependent AKT pro-survival signalling.
- Pubmed
- 24469048
- 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
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs