Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker GENOMICS_ENGLAND Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations. 31192177

2019
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE Lymphoblastoid cell lines were established from an RBS family, including the proband and parents carrying ESCO2 mutations. 30508616

2019
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE The mortality of RBS patients (21%) was higher compared with patients without RBS (3.9%, p < 0.001). 29382509

2018
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE Mutations in Esco2 cause Roberts syndrome, a developmental disease characterized by severe prenatal retardation as well as limb and facial abnormalities. 28934466

2017
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 AlteredExpression BEFREE Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome. 29084713

2017
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. 26710928

2016
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE Roberts syndrome (RBS) is a human developmental disorder caused by mutations in the cohesin acetyltransferase ESCO2. 26729373

2016
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE RBS is caused by mutations in ESCO2, a gene which encodes an acetyltransferase for the cohesin complex. 24098154

2013
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker BEFREE To our surprise and in marked contrast to RBS, mouse Esco2 turns out to be a cell viability factor, the absence of which results in severe chromosome segregation defects and apoptosis. 22614755

2012
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker BEFREE Esco2 depleted zebrafish embryos exhibit features that resemble RBS, including mitotic defects, craniofacial abnormalities and limb truncations. 21637801

2011
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker CTD_human The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. 20101700

2010
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker GENOMICS_ENGLAND In situ hybridisation on human embryos showed ESCO2 expression in the brain, face, limb, kidney and gonads, which corresponds to the structures affected in RBS. 19574259

2010
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 AlteredExpression BEFREE In situ hybridisation on human embryos showed ESCO2 expression in the brain, face, limb, kidney and gonads, which corresponds to the structures affected in RBS. 19574259

2010
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker BEFREE Since ESCO2 has been identified as the gene defective in the rare autosomal recessive cohesinopathy Roberts syndrome (RBS), cells from RBS patients can be used to elucidate the role of ESCO2. 19738907

2009
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 AlteredExpression BEFREE The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. 18411254

2008
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker BEFREE Over 60% of CdLS patients examined have de novo mutations in either: SCC2/NIPBL, SMC1, or SMC3, whereas the causative gene in Roberts syndrome and SC Phocomelia has been identified as ESCO2. 18786550

2008
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 CausalMutation CLINVAR The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. 18411254

2008
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE The present case demonstrates the prenatal diagnosis of RBS associated with a frameshift mutation in ESCO2. 18186147

2008
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker CTD_human The present case demonstrates the prenatal diagnosis of RBS associated with a frameshift mutation in ESCO2. 18186147

2008
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker BEFREE Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. 17273969

2007
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE We performed mutational analysis of the ESCO2 gene in two fetuses diagnosed with RS and their normal parents. 16775838

2006
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. 15821733

2005
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation BEFREE Recently, mutations in ESCO2 (establishment of cohesion 1 homolog 2) on 8p21.1 have been reported in RBS. 16380922

2005
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 Biomarker CTD_human Recently, mutations in ESCO2 (establishment of cohesion 1 homolog 2) on 8p21.1 have been reported in RBS. 16380922

2005
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		0.800 GeneticVariation UNIPROT We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. 15821733

2005