NEK8, NIMA related kinase 8, 284086

N. diseases: 54; N. variants: 18
Disease: Hydrocephalus, Normal Pressure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.020 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: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.020 Biomarker disease BEFREE As NPHP9 has been shown to be upregulated in breast cancer, these data do not only support a critical role for TAZ/hippo signalling in the pathogenesis of NPH but may also imply a possible role for NPHP9 in TAZ-mediated tumorigenesis. 23026745 2012