ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Disease: Craniosynostosis, Type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		0.400 GeneticVariation disease CLINVAR De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. 28808027 2017
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		0.400 Biomarker disease CTD_human Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		0.400 CausalMutation disease CLINVAR Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		0.400 GeneticVariation disease CLINVAR Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013