PCNT, pericentrin, 5116

N. diseases: 156; N. variants: 43
Disease: Autosomal Recessive Primary Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.010 Biomarker disease BEFREE Remarkably, this KEN box is deleted in MCPH mutants of STIL, rendering STIL resistant to proteasomal degradation and causing centriole amplification. 24485834 2014