IL6ST, interleukin 6 signal transducer, 3572

N. diseases: 260; N. variants: 6
Disease: Abnormality of the skeletal system ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 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