CEP63, centrosomal protein 63, 80254

N. diseases: 44; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.600 Biomarker disease GENOMICS_ENGLAND CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. 26158450 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.600 Biomarker disease CTD_human A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.600 Biomarker disease HPO
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.400 Biomarker disease GENOMICS_ENGLAND Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family. 26400686 2015
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.400 Biomarker disease GENOMICS_ENGLAND CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. 26158450 2015
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.400 GeneticVariation disease CLINVAR A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.400 Biomarker disease GENOMICS_ENGLAND A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.400 Biomarker disease GENOMICS_ENGLAND A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.400 CausalMutation disease CLINVAR
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		0.310 Biomarker disease GENOMICS_ENGLAND Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family. 26400686 2015
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		0.310 GeneticVariation disease BEFREE We identified a two-base mutation, causing a p.R229L amino acid substitution in the centrosomal protein 63 kDa (CEP63), co-segregating with developmental dyslexia in this pedigree. 26400686 2015
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 Biomarker disease BEFREE Using super-resolution microscopy, we found that CEP63 and CEP152 co-localize in a discrete ring around the proximal end of the parental centriole, a pattern specifically disrupted in CEP63-deficient cells derived from patients with MCPH. 21983783 2011
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation disease ORPHANET
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination. 26158450 2015
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.300 Biomarker disease CTD_human A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		0.300 Biomarker disease CTD_human A primary microcephaly protein complex forms a ring around parental centrioles. 21983783 2011
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.200 Biomarker disease MGD
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.200 Biomarker disease MGD
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.200 Biomarker disease MGD
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		0.200 Biomarker disease MGD
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.200 Biomarker disease MGD
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.200 Biomarker disease MGD
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.200 Biomarker disease MGD
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.200 Biomarker disease MGD
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.200 Biomarker disease MGD