ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Disease: Complex craniosynostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3839609
Disease: Complex craniosynostosis
Complex craniosynostosis 		0.320 Biomarker disease GENOMICS_ENGLAND Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. 27738187 2017
CUI: C3839609
Disease: Complex craniosynostosis
Complex craniosynostosis 		0.320 GeneticVariation disease BEFREE Recently, however, mutations in ERF, a downstream molecule of the RAS signaling cascade, have been identified as a cause of complex craniosynostosis, suggesting that the RAS and FGFR signaling pathways can interact in the pathogenesis of malformation syndromes. 25123707 2014
CUI: C3839609
Disease: Complex craniosynostosis
Complex craniosynostosis 		0.320 Biomarker disease BEFREE Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013