Condition: NEPHRONOPHTHISIS 9
rs118204032
in
NEK8
gene and
NEPHRONOPHTHISIS 9
PMID 18199800
2008 NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.
PMID 23418306
2013 Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.