CEP152, centrosomal protein 152, 22995

N. diseases: 66; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553886
Disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. 20598275 2010
CUI: C3553886
Disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C3553886
Disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C3553886
Disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR
CUI: C3553886
Disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 21131973 2011
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 21131973 2011
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		0.600 CausalMutation disease CLINVAR CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 21131973 2011
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		0.600 GeneticVariation disease UNIPROT CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 21131973 2011
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.410 GeneticVariation disease BEFREE Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation. 21131973 2011
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.410 GermlineCausalMutation disease ORPHANET Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation. 21131973 2011
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.410 GeneticVariation disease CLINVAR
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.320 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 		0.320 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 		0.320 GermlineCausalMutation disease ORPHANET
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.310 GeneticVariation disease BEFREE Exomes of patients with PM showed a significant burden of variants in 75 PM genes, that persisted after removing monogenic causes of PM (e.g., biallelic pathogenic variants in CEP152). 31696992 2019
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C1858516
Disease: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 		0.300 Biomarker disease GENOMICS_ENGLAND CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 21131973 2011
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		0.300 Biomarker disease CTD_human CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 21131973 2011
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.100 GeneticVariation phenotype GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0006625
Disease: Cachexia
Cachexia 		0.100 Biomarker phenotype HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO