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: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		0.400 CausalMutation disease CLINVAR 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 GeneticVariation disease CLINVAR Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.400 Biomarker disease HPO
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		0.400 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.400 Biomarker disease HPO
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		0.400 Biomarker disease HPO
CUI: C3839609
Disease: Complex craniosynostosis
Complex craniosynostosis 		0.320 Biomarker disease GENOMICS_ENGLAND 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: C3839609
Disease: Complex craniosynostosis
Complex craniosynostosis 		0.320 GeneticVariation disease BEFREE Recently, however, mutations in ERF, a downstream molecule of the RAS signaling cascade, have been identified as a cause of complex craniosynostosis, suggesting that the RAS and FGFR signaling pathways can interact in the pathogenesis of malformation syndromes. 25123707 2014
CUI: C3839609
Disease: Complex craniosynostosis
Complex craniosynostosis 		0.320 Biomarker disease BEFREE Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.310 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.310 AlteredExpression group BEFREE We report known prostate tumor regulatory drivers and nominate novel transcription factors (ERF, CREB3L1, and POU2F2), which are supported by functional validation. 28750683 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0023012
Disease: Language Delay
Language Delay 		0.300 Biomarker phenotype 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: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.300 Biomarker group 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: C0241210
Disease: Speech Delay
Speech Delay 		0.300 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: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.300 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: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group 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: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder 		0.300 Biomarker phenotype 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: C0555206
Disease: Chiari malformation type II
Chiari malformation type II 		0.300 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: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		0.300 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: C0750931
Disease: Arnold-Chiari Malformation, Type III
Arnold-Chiari Malformation, Type III 		0.300 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: C0750932
Disease: Arnold-Chiari Malformation, Type IV
Arnold-Chiari Malformation, Type IV 		0.300 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: C0751257
Disease: Auditory Processing Disorder, Central
Auditory Processing Disorder, Central 		0.300 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: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		0.300 GermlineCausalMutation phenotype ORPHANET Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		0.300 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