CEP63, centrosomal protein 63, 80254

N. diseases: 44; N. variants: 15
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family. 26400686 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR UniProt: a hub for protein information. 25348405 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. 26158450 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Cep63 and cep152 cooperate to ensure centriole duplication. 23936128 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance. 21406398 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 20598275 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The NCBI BioSystems database. 19854944 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Asymmetric centrosome inheritance maintains neural progenitors in the neocortex. 19829375 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR The Human Gene Mutation Database: 2008 update. 19348700 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR What primary microcephaly can tell us about brain growth. 16829198 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 15793586 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Nonsense-mediated decay approaches the clinic. 15284851 2004