CENPJ, centromere protein J, 55835

N. diseases: 150; N. variants: 24
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 		0.310 GeneticVariation disease BEFREE A natural mutation of CPAP (E1235V) that causes MCPH in humans leads to significantly lower binding to STIL. 22020124 2011
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.310 Biomarker disease GENOMICS_ENGLAND A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 16900296 2006