CEP135, centrosomal protein 135, 9662

N. diseases: 31; 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 		0.310 GeneticVariation disease BEFREE A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. 22521416 2012
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.310 Biomarker disease GENOMICS_ENGLAND