CEP152, centrosomal protein 152, 22995

N. diseases: 66; N. variants: 32
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 Exomes of patients with PM showed a significant burden of variants in 75 PM genes, that persisted after removing monogenic causes of PM (e.g., biallelic pathogenic variants in CEP152). 31696992 2019
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.310 Biomarker disease GENOMICS_ENGLAND