Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555750721
rs1555750721
ERF
CUI: C0432072
Disease: Dysmorphic features
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: rs1555750721
rs1555750721
ERF
CUI: C0432072
Disease: Dysmorphic features
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: rs1555750721
rs1555750721
ERF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. 20643727

2010