|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
|
28264986 |
2017 |
|
Hydranencephaly with Renal Aplasia-Dysplasia
|
0.620 |
GermlineCausalMutation
|
disease |
ORPHANET |
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
|
28264986 |
2017 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Meckel-Gruber syndrome
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
|
28295209 |
2017 |
|
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 |
|
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 |
|
Hydranencephaly
|
0.110 |
Biomarker
|
disease |
BEFREE |
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
|
30622327 |
2019 |
|
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 |
|
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 |
|
Hydranencephaly
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Renal Cell Dysplasia
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Renal dysplasia
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The mRNA expression levels of CEP55 in ccRCC samples were significantly higher than those observed in adjacent normal kidney tissues based on The Cancer Genome Atlas data and reverse transcription‑polymerase chain reaction results.
|
30896867 |
2019 |