NEK8, NIMA related kinase 8, 284086

N. diseases: 54; N. variants: 18
Disease: Congenital cystic kidney disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.030 GeneticVariation disease BEFREE Missense mutations in NEK8/NPHP9 have been identified in juvenile cystic kidney jck mice and in patients suffering from nephronophthisis (NPH), an autosomal-recessive cystic kidney disease. 23418306 2013
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.030 GeneticVariation disease BEFREE The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. 22106379 2012
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		0.030 GeneticVariation disease BEFREE Our genetic and functional data support the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between proteins mutated in cystic kidney disease and their localization to cilia and centrosomes. 18199800 2008