Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Centrosomal protein of 70 kDa (Cep70) (p10-binding protein)
Protein function
Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
Median cleft lip and palate
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through text mining
["Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
["Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
["Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
["Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
["Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to CEP70 (see Related Genes above), that are NOT already directly curated for CEP70 itself -- a lead worth checking, not a confirmed association.