SPOP, speckle type BTB/POZ protein, 8405

N. diseases: 72; N. variants: 12
Disease: Congenital chromosomal disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 GeneticVariation group BEFREE Altered expression and somatic mutations of SPOP have been observed in various tumor types with chromosomal aberrations, indicating a role of SPOP in maintaining genome stability, although a detailed mechanism remains unclear. 24451148 2014