SPOP, speckle type BTB/POZ protein, 8405

N. diseases: 72; N. variants: 12
Disease: Aortic Valve Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.010 GeneticVariation disease BEFREE AKT-mTOR and androgen receptor (AR) signaling pathways are aberrantly activated in prostate cancer due to frequent PTEN deletions or SPOP mutations. 29523594 2018