CEP135, centrosomal protein 135, 9662

N. diseases: 31; N. variants: 5
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. 22521416 2012
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease CTD_human
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 CausalMutation disease CLINVAR