CENPE, centromere protein E, 1062

N. diseases: 78; N. variants: 5
Disease: Primary microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.010 GeneticVariation disease BEFREE The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. 28756000 2018