ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041001
rs886041001
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4310679
Disease:
CHITAYAT SYNDROME 		0.810 GeneticVariation BEFREE Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. 30569521 2019
dbSNP: rs886041001
rs886041001
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4310679
Disease:
CHITAYAT SYNDROME 		C 0.810 CausalMutation CLINVAR
dbSNP: rs886041001
rs886041001
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4310679
Disease:
CHITAYAT SYNDROME 		0.810 GeneticVariation UNIPROT
dbSNP: rs587777008
rs587777008
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C3806917
Disease:
CRANIOSYNOSTOSIS 4 		0.800 GeneticVariation UNIPROT Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
dbSNP: rs587777009
rs587777009
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C3806917
Disease:
CRANIOSYNOSTOSIS 4 		0.800 GeneticVariation UNIPROT Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
dbSNP: rs587777008
rs587777008
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C3806917
Disease:
CRANIOSYNOSTOSIS 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777009
rs587777009
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C3806917
Disease:
CRANIOSYNOSTOSIS 4 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1555750721
rs1555750721
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR 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
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: rs35493131
rs35493131
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C0750880
Disease:
Monocyte count result 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs35493131
rs35493131
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C0200637
Disease:
Monocyte count procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1555750721
rs1555750721
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C0432072
Disease:
Dysmorphic features 		A 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: 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: rs1555750721
rs1555750721
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727 2010
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
dbSNP: rs587777006
rs587777006
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C3806917
Disease:
CRANIOSYNOSTOSIS 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777006
rs587777006
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C4310679
Disease:
CHITAYAT SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777007
rs587777007
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C3806917
Disease:
CRANIOSYNOSTOSIS 4 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777010
rs587777010
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C3806917
Disease:
CRANIOSYNOSTOSIS 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864321680
rs864321680
Entrez Id: 2077
Gene Symbol: ERF
ERF
CUI: C3806917
Disease:
CRANIOSYNOSTOSIS 4 		C 0.700 CausalMutation CLINVAR