CEP55, centrosomal protein 55, 55165

N. diseases: 134; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 GeneticVariation disease BEFREE Thus, we propose that the zebrafish cep55 mutant is a model organism for human MARCH syndrome. 31365163 2019
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 GeneticVariation disease BEFREE A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 28264986 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.340 GeneticVariation disease BEFREE Mutations in CEP55 affected overall survival and disease‑free survival in HCC, whereas, mutations in CDC25A affected overall survival, and mutations in E2F7 affected disease‑free survival. 30535497 2019
Renal hepatic pancreatic dysplasia Dandy Walker cyst
0.310 GeneticVariation disease BEFREE A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 28295209 2017
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.020 GeneticVariation disease BEFREE In univariate proportional hazards models, CEP55 (HR = 3.59, 95% CI: 1.50-8.60), p = 0.004; NUF2 (HR = 2.28, 95% CI: 1.11-4.67), p = 0.024; and PAGE4 (HR = 0.44, 95% CI: 0.21-0.93), p = 0.031 were significantly associated with the risk of PCa recurrence. 21917134 2011
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 GeneticVariation disease BEFREE In univariate proportional hazards models, CEP55 (HR = 3.59, 95% CI: 1.50-8.60), p = 0.004; NUF2 (HR = 2.28, 95% CI: 1.11-4.67), p = 0.024; and PAGE4 (HR = 0.44, 95% CI: 0.21-0.93), p = 0.031 were significantly associated with the risk of PCa recurrence. 21917134 2011
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 GeneticVariation disease BEFREE After analysing gene-expression profiles of colon cancers on a cDNA microarray containing cDNAs corresponding to 23 040 human genes, we focused on a gene annotated as C10orf3 (chromosome 10 open reading frame 3), whose expression was elevated in colorectal cancers (CRC) as well as in tumors arising in the stomach, lung, pancreas, and breast. 16170351 2006
CUI: C0015929
Disease: Fetal Diseases
Fetal Diseases
0.010 GeneticVariation group BEFREE Here we identified a novel homozygous founder frameshift variant in CEP55, present at low frequency in the Amish community, in two siblings presenting with a lethal foetal disorder. 30622327 2019
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 Biomarker disease GENOMICS_ENGLAND An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 30622327 2019
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 Biomarker disease GENOMICS_ENGLAND An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 30622327 2019
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 Biomarker disease GENOMICS_ENGLAND A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 28264986 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.340 Biomarker disease BEFREE In summary, our results suggest that CEP55, as an oncogene, promotes HCC cell migration and invasion through regulating JAK2⁻STAT3⁻MMPs signaling. 30096813 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.340 Biomarker disease BEFREE CEP55 exists in many kinds of normal tissues and tumour cells such as hepatocellular carcinoma, and is important in carcinogenesis. 24390615 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.340 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.340 Biomarker disease BEFREE The newly identified miR-363-3p/SPAG5/CEP55 axis may represent a potential therapeutic target for the clinical intervention of HCC. 30089483 2018
Renal hepatic pancreatic dysplasia Dandy Walker cyst
0.310 Biomarker disease GENOMICS_ENGLAND A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 28295209 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly
0.110 Biomarker disease HPO
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly
0.110 Biomarker disease BEFREE An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 30622327 2019
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia
0.110 Biomarker disease BEFREE An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 30622327 2019
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia
0.110 Biomarker disease HPO
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia
0.110 Biomarker disease HPO
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia
0.110 Biomarker disease BEFREE An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 30622327 2019