IL6ST, interleukin 6 signal transducer, 3572

N. diseases: 260; N. variants: 6
Disease: Craniosynostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.020 GeneticVariation disease BEFREE In this study, we describe a patient with a homozygous mutation of <i>IL6ST</i> (encoding GP130 p.N404Y) who presented with recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response, as well as skeletal abnormalities including craniosynostosis. 28747427 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.020 Biomarker disease BEFREE Peak levels of 24 cytokines, including IFNγ, IL6, sgp130, and sIL6R, in the first month after infusion were highly associated with severe CRS. 27076371 2016