NEK8, NIMA related kinase 8, 284086

N. diseases: 54; N. variants: 18
Disease: Asplenia Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		0.010 GeneticVariation disease BEFREE Mutations in NEK8 have been previously reported in three fetuses (from a single family) with renal-hepatic-pancreatic dysplasia 2 (RHPD2), similar to Ivemark syndrome, and in three individuals with nephronophthisis (NPHP9). 26697755 2016