IFNA1, interferon alpha 1, 3439

N. diseases: 662; N. variants: 6
Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.040 AlteredExpression disease BEFREE Finally, mass cytometry analysis of 8 IFN-inducible phosphoepitopes demonstrates that T cell subsets with T21 show elevated levels of basal IFN signaling and hypersensitivity to IFN-α stimulation. 31699819 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.040 Biomarker disease BEFREE Finally, a mouse model of DS carrying triplication of IFN receptors exhibits KP dysregulation. 31628327 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.040 Biomarker disease BEFREE Actual measurements of these by competition binding experiments with human recombinant alpha-IFN on peripheral blood mononuclear cells (PBMC) from patients with Down's syndrome resulted in a mean of 1.69, which is in accordance to the theoretical 1.50, but slightly overestimated due to the calculation method. 8481402 1993
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.040 Biomarker disease BEFREE Down-regulation of the alpha-IFN receptors in trisomy 21 and normal cells was studied by incubating the cells with alpha-IFN. 1384107 1992