ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310679
Disease: CHITAYAT SYNDROME
CHITAYAT SYNDROME
0.710 GeneticVariation disease BEFREE Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. 30569521 2019
CUI: C4310679
Disease: CHITAYAT SYNDROME
CHITAYAT SYNDROME
0.710 GeneticVariation disease UNIPROT 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
CUI: C4310679
Disease: CHITAYAT SYNDROME
CHITAYAT SYNDROME
0.710 Biomarker disease GENOMICS_ENGLAND Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. 26097063 2015
CUI: C4310679
Disease: CHITAYAT SYNDROME
CHITAYAT SYNDROME
0.710 CausalMutation disease CLINVAR
CUI: C4310679
Disease: CHITAYAT SYNDROME
CHITAYAT SYNDROME
0.710 Biomarker disease CTD_human
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
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
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.440 Biomarker disease BEFREE These cell lines provide good materials to understand the roles of ERF in development, trophoblast differentiation and craniosynostosis for further studies. 31743839 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.440 GeneticVariation disease BEFREE Here, we present findings from 16 unrelated probands with ERF-related craniosynostosis, with additional data from 20 family members sharing the mutations. 30758909 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.440 Biomarker disease BEFREE <i>Erf</i> haploinsufficiency causes craniosynostosis in humans and mice, while its absence in mice leads to failed chorioallantoic fusion and death at embryonic day 10.5 (E10.5). 28694332 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.440 GeneticVariation disease BEFREE In order to determine the contribution of ERF mutations to genetically undiagnosed patients with craniosynostosis, we sequenced the coding regions of ERF in 40 patients with multi-suture or sagittal suture synostosis. 26097063 2015
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.440 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: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.440 Biomarker disease HPO
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: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation
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: C0030044
Disease: Acrocephaly
Acrocephaly
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: C0221356
Disease: Brachycephaly
Brachycephaly
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: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
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 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