ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Disease: CRANIOSYNOSTOSIS 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.610 GeneticVariation disease BEFREE Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. 30758909 2019
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.610 Biomarker disease GENOMICS_ENGLAND Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. 26097063 2015
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.610 Biomarker disease GENOMICS_ENGLAND Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.610 GeneticVariation disease UNIPROT Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.610 CausalMutation disease CLINVAR