ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Disease: CHITAYAT SYNDROME ×
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