IL9R, interleukin 9 receptor, 3581

N. diseases: 44; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543687
Disease: Thymic alymphoplasia
Thymic alymphoplasia
0.010 Biomarker disease BEFREE Mutations in the common gamma chain (gamma c) of cytokine receptors account for human X-linked severe combined immunodeficiency disease. gamma c contributes to ligand binding and signaling as a component of five cytokine receptors: interleukin-2-receptor (IL-2R), IL-4R, IL-7R, IL-9R and IL-15R. 10098325 1999