CENPJ, centromere protein J, 55835

N. diseases: 150; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		0.710 GeneticVariation disease UNIPROT The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation. 22020124 2011
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.710 GeneticVariation disease BEFREE CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD. 20522431 2010
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD. 20522431 2010
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.710 GermlineCausalMutation disease ORPHANET CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD. 20522431 2010
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD. 20522431 2010
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		0.710 GeneticVariation disease BEFREE Three families showed homozygosity at MCPH2 and five at MCPH6 (CENPJ), and two families were linked to MCPH7 (STIL). 20978018 2010
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		0.710 Biomarker disease GENOMICS_ENGLAND Novel CENPJ mutation causes Seckel syndrome. 20522431 2010
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		0.710 Biomarker disease GENOMICS_ENGLAND A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 16900296 2006
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		0.710 GeneticVariation disease UNIPROT A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 15793586 2005
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.710 Biomarker disease MGD
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		0.710 CausalMutation disease CLINVAR
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		0.710 GeneticVariation disease CLINVAR
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		0.710 Biomarker disease CTD_human
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND Novel CENPJ mutation causes Seckel syndrome. 20522431 2010
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 16900296 2006
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.600 GeneticVariation disease CLINVAR
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.600 Biomarker disease CTD_human
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		0.600 CausalMutation disease CLINVAR
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.430 GeneticVariation disease BEFREE Functional studies in Drosophila, human cells, and human induced pluripotent stem cell-derived neural progenitor cells were used to test this hypothesis, where point mutations within the 9-10th β-strands (β9-10 mutants including a MCPH-associated mutation) perturbed PCM tethering while allowing Sas-4/CPAP to scaffold cytoplasmic PCM complexes. 24385583 2014
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.430 GeneticVariation disease BEFREE Autosomal Recessive Primary Microcephaly (MCPH) is one of those, for which seven loci (MCPH1-MCPH7) with the corresponding genes (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL) have been reported so far. 24148351 2013
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.430 GeneticVariation disease BEFREE A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 16900296 2006
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.430 CausalMutation disease CLINVAR
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.430 GeneticVariation disease CLINVAR
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.430 GermlineCausalMutation disease ORPHANET