ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Disease: Craniosynostosis, Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777007
rs587777007
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		C 0.700 GeneticVariation CLINVAR De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. 28808027 2017
dbSNP: rs1555750816
rs1555750816
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		T 0.700 CausalMutation CLINVAR Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
dbSNP: rs587777007
rs587777007
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		C 0.700 GeneticVariation CLINVAR Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
dbSNP: rs1555750741
rs1555750741
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555750795
rs1555750795
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1568472771
rs1568472771
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1568475667
rs1568475667
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777006
rs587777006
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4551902
Disease:
Craniosynostosis, Type 1 		A 0.700 CausalMutation CLINVAR