CENPE, centromere protein E, 1062

N. diseases: 78; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 24748105 2014
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.510 GeneticVariation disease BEFREE Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 24748105 2014
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.510 GermlineCausalMutation disease ORPHANET Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 24748105 2014
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.320 Biomarker disease BEFREE The clinical trials emerged centromere protein E inhibitor GSK923295 as a promising anticancer drug, but its function in hepatocellular carcinoma (HCC) remain needs to be fully elucidated, especially as chemotherapy after hepatectomy for liver tumors. 30681497 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.320 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 		0.320 AlteredExpression disease BEFREE Together with other results, these results reveal that CENP-E expression was reduced in human HCC tissue, and low CENP-E expression result in aneuploidy in LO2 cells. 20021663 2009
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.310 GeneticVariation disease BEFREE Here, we described novel compound heterozygous variants in CENPE in two siblings who exhibit a profound MPD associated with developmental delay, simplified gyri and other isolated abnormalities. 24748105 2014
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. 28756000 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.100 GeneticVariation disease GWASCAT Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. 28604732 2017
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.100 GeneticVariation disease GWASCAT Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. 28604728 2017
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.100 GeneticVariation disease GWASCAT Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor. 25877299 2015
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		0.100 GeneticVariation group GWASCAT Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.100 GeneticVariation disease GWASDB Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
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