Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2077
Gene Symbol: ERF
ERF
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
Entrez Id: 2077
Gene Symbol: ERF
ERF
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
Entrez Id: 2077
Gene Symbol: ERF
ERF
0.710 Biomarker disease GENOMICS_ENGLAND Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. 26097063 2015
Entrez Id: 2077
Gene Symbol: ERF
ERF
0.710 CausalMutation disease CLINVAR
Entrez Id: 2077
Gene Symbol: ERF
ERF
0.710 Biomarker disease CTD_human