ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Disease: Scaphycephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.500 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: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.500 GermlineCausalMutation disease ORPHANET Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013