Gene: CEP57 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax. 30010053 2019
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression. 30035751 2018
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing. 30147898 2018
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN Cep57 is a Mis12-interacting kinetochore protein involved in kinetochore targeting of Mad1-Mad2. 26743940 2016
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. 24259107 2014
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN Cep57 protein is required for cytokinesis by facilitating central spindle microtubule organization. 23569207 2013
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN Cep57, a NEDD1-binding pericentriolar material component, is essential for spindle pole integrity. 22508265 2012
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. 21552266 2011
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. 21552266 2011
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN Xenopus Cep57 is a novel kinetochore component involved in microtubule attachment. 17803911 2007
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease CLINGEN Proteomic characterization of the human centrosome by protein correlation profiling. 14654843 2003
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 Biomarker disease GENOMICS_ENGLAND Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects. 12116237 2002
Entrez Id: 9702
Gene Symbol: CEP57
CEP57 		0.600 CausalMutation disease CLINVAR