CEP83, centrosomal protein 83, 51134

N. diseases: 15; N. variants: 15
Disease: Congenital neurologic anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		0.010 GeneticVariation group BEFREE In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals. 24882706 2014